List of diseases covered by Joubert Syndrome NGS panel

Published 28/05/2018

List of diseases covered by
Joubert Syndrome NGS panel

Gene Condition
AHI1 Joubert syndrome 3
ARL13B Joubert syndrome 8
B9D1 Joubert syndrome 27; Meckel syndrome 9
B9D2 Joubert syndrome 34
C5orf42 Joubert syndrome 17; Orofaciodigital syndrome VI
CC2D2A Joubert syndrome 9; Meckel syndrome 6; COACH syndrome
CEP290 Joubert syndrome 5; Meckel syndrome 4; Senior-Loken syndrome 6;
Leber congenital amaurosis 10; Bardet-Biedl syndrome 14
CEP41 Joubert syndrome 15
CEP104 Joubert syndrome 25
CSPP1 Joubert syndrome 21
INPP5E Joubert syndrome 1; Mental retardation, truncal obesity,
retinal dystrophy, and micropenis
KIF7 Joubert syndrome 12; Hydrolethalus syndrome 2;
Al-Gazali-Bakalinova syndrome
KIAA0556 Joubert syndrome 26
KIAA0586 Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly
MKS1 Joubert syndrome 28; Meckel syndrome 1; Bardet-Biedl syndrome 13
NPHP1 Joubert syndrome 4; Nephronophthisis 1, juvenile;
Senior-Loken syndrome-1
OFD1 Joubert syndrome 10; Orofaciodigital syndrome I;
Simpson-Golabi-Behmel syndrome, type 2; Retinitis pigmentosa 23
PDE6D Joubert syndrome 22
RPGRIP1L Joubert syndrome 7; COACH syndrome; Meckel syndrome 5
TCTN1 Joubert syndrome 13
TCTN2 Joubert syndrome 24; Meckel syndrome 8
TCTN3 Joubert syndrome 18; Orofaciodigital syndrome IV
TMEM138 Joubert syndrome 16
TMEM216 Joubert syndrome 2; Meckel syndrome 2
TMEM231 Joubert syndrome 20; Meckel syndrome 11
TMEM67 Joubert syndrome 6; Meckel syndrome 3; COACH syndrome;
Nephronophthisis 11
TMEM237 Joubert syndrome 14
TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly;
Nephronophthisis 12
ZNF423 Joubert syndrome 19

List of diseases covered by Hereditary Spastic Paraplegia NGS panel

Published 24/05/2018

List of diseases covered by
Hereditary Spastic Paraplegia NGS panel

Gene Condition
AMACR Alpha-methylacyl-CoA racemase deficiency;
Bile acid synthesis defect, congenital, 4
ALDH18A1 Cutis laxa, autosomal dominant 3;
Cutis laxa, autosomal recessive, type IIIA;
Spastic paraplegia 9A, autosomal dominant;
Spastic paraplegia 9B, autosomal recessive
ARG1 Argininemia
ATL1 Spastic paraplegia 3A, autosomal dominant;
Neuropathy, hereditary sensory, type ID
AP4B1 Spastic paraplegia 47, autosomal recessive
AP4E1 Spastic paraplegia 51, autosomal recessive
AP4M1 Spastic paraplegia 50, autosomal recessive
AP4S1 Spastic paraplegia 52, autosomal recessive
AP5Z1 Spastic paraplegia 48, autosomal recessive
B4GALNT1 Spastic paraplegia 26, autosomal recessive
BSCL2 Encephalopathy, progressive, with or without lipodystrophy;
Lipodystrophy, congenital generalized, type 2;
Neuropathy, distal hereditary motor, type VA;
Silver spastic paraplegia syndrome
CYP7B1 Spastic paraplegia 5A, autosomal recessive;
CYP2U1 Spastic paraplegia 56, autosomal recessive
CYP27A1 Cerebrotendinous xanthomatosis
DDHD1 Spastic paraplegia 28, autosomal recessive
DDHD2 Spastic paraplegia 54, autosomal recessive
ERLIN2 Spastic paraplegia 18, autosomal recessive
FA2H Spastic paraplegia 35, autosomal recessive
GBA2 Spastic paraplegia 46, autosomal recessive
GJC2 Spastic paraplegia 44, autosomal recessive;
Leukodystrophy, hypomyelinating, 2; Lymphedema, hereditary, IC
HSPD1 Spastic paraplegia 13, autosomal dominant;
Leukodystrophy, hypomyelinating, 4
KIF1A Spastic paraplegia 30, autosomal recessive;
Mental retardation, autosomal dominant 9;
Neuropathy, hereditary sensory, type IIC
KIF5A Spastic paraplegia 10, autosomal dominant;
Amyotrophic lateral sclerosis, susceptibility to, 25;
Myoclonus, intractable, neonatal
L1CAM CRASH syndrome; Corpus callosum, partial agenesis of;
Hydrocephalus due to aqueductal stenosis
MTHFR Homocystinuria due to MTHFR deficiency
NIPA1 Spastic paraplegia 6, autosomal dominant
PAH Phenylketonuria;
[Hyperphenylalaninemia, non-PKU mild]
PEX1 Heimler syndrome 1;
Peroxisome biogenesis disorder 1A (Zellweger);
Peroxisome biogenesis disorder 1B (NALD/IRD)
PLA2G6 Infantile neuroaxonal dystrophy 1;
Neurodegeneration with brain iron accumulation 2B;
Parkinson disease 14, autosomal recessive
PLP1 Spastic paraplegia 2, X-linked; Pelizaeus-Merzbacher disease
PNPLA6 Spastic paraplegia 39, autosomal recessive;
Boucher-Neuhauser syndrome; Oliver-McFarlane syndrome
REEP1 Spastic paraplegia 31, autosomal dominant;
Neuronopathy, distal hereditary motor, type VB
RTN2 Spastic paraplegia 12, autosomal dominant
SLC16A2 Allan-Herndon-Dudley syndrome
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SPART Troyer syndrome
SPAST Spastic paraplegia 4, autosomal dominant
SPG7 Spastic paraplegia 7, autosomal recessive
SPG11 Spastic paraplegia 11, autosomal recessive;
Amyotrophic lateral sclerosis 5, juvenile;
Charcot-Marie-Tooth disease, axonal, type 2X
SPG21 Mast syndrome
TECPR2 Spastic paraplegia 49, autosomal recessive
VPS37A Spastic paraplegia 53, autosomal recessive
WASHC5 Spastic paraplegia 8, autosomal dominant;
Ritscher-Schinzel syndrome 1
ZFYVE26 Spastic paraplegia 15, autosomal recessive

List of diseases covered by Epilepsy NGS panel

Published 21/05/2018

List of diseases covered by
Epilepsy NGS panel

Gene Condition
AARS1 Epileptic encephalopathy, early infantile, 29;
Charcot-Marie-Tooth disease, axonal, type 2N
ABAT GABA-transaminase deficiency
ACTL6B Epileptic encephalopathy, early infantile, 76;
Intellectual developmental disorder with severe speech and ambulation defects
ADAM22 Epileptic encephalopathy, early infantile, 61
ADAR Aicardi-Goutieres syndrome 6
ADSL Adenylosuccinase deficiency
ACY1 Aminoacylase 1 deficiency
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ALDH7A1 Epilepsy, pyridoxine-dependent
ALG3 Congenital disorder of glycosylation, type Id
ALG13 Epileptic encephalopathy, early infantile, 36
AMT Glycine encephalopathy
AP3B2 Epileptic encephalopathy, early infantile, 48
ARHGEF9 Epileptic encephalopathy, early infantile, 8
ARHGEF15 Early infantile epileptic encephalopathy
ARX Epileptic encephalopathy, early infantile, 1;
Lissencephaly, X-linked 2;
Mental retardation, X-linked 29 and others; Partington syndrome;
Proud syndrome
ASAH1 Farber lipogranulomatosis;
Spinal muscular atrophy with progressive myoclonic epilepsy
ATP1A2 Migraine, familial basilar;
Alternating hemiplegia of childhood 1
ATP1A3 CAPOS syndrome; Dystonia-12;
Alternating hemiplegia of childhood 2
ATP6AP2 Mental retardation, X-linked, syndromic, Hedera type;
Parkinsonism with spasticity, X-linked
ATP6V1A Epileptic encephalopathy, infantile or early childhood, 3
ATRX Mental retardation-hypotonic facies syndrome, X-linked;
Alpha-thalassemia/mental retardation syndrome
BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal
CACNA1A Epileptic encephalopathy, early infantile, 42;
Episodic ataxia, type 2;
Migraine, familial hemiplegic, 1; Spinocerebellar ataxia 6
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities;
Sinoatrial node dysfunction and deafness
CACNA2D2 Early infantile epileptic encephalopathy
CACNA1E Epileptic encephalopathy, early infantile, 69
CACNA1H Epilepsy, childhood absence, susceptibility to, 6;
Hyperaldosteronism, familial, type IV
CACNB4 Episodic ataxia, type 5;
Epilepsy, idiopathic generalized, susceptibility to, 9
CASK FG syndrome 4;
Mental retardation, with or without nystagmus
CDC42 Takenouchi-Kosaki syndrome
CDKL5 Epileptic encephalopathy, early infantile, 2
CERS1 Epilepsy, progressive myoclonic, 8
CHD2 Epileptic encephalopathy, childhood-onset
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CHRNA7 Epilepsy, idiopathic generalized 7
CHRNA4 Epilepsy, nocturnal frontal lobe, 1
CHRNB2 Epilepsy, nocturnal frontal lobe, 3
CLCN2 Leukoencephalopathy with ataxia;
Epilepsy, idiopathic generalized, susceptibility to, 11
CLN3 Ceroid lipofuscinosis, neuronal, 3
CLN8 Ceroid lipofuscinosis, neuronal, 8;
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
CNPY3 Epileptic encephalopathy, early infantile, 60
CNTN2 Epilepsy, myoclonic, familial adult, 5
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome
C12orf57 Temtamy syndrome
CPA6 Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11
CRH Autosomal dominant nocturnal frontal lobe epilepsy
CSTB Epilepsy, progressive myoclonic 1A
CTSF Ceroid lipofuscinosis, neuronal, 13, Kufs type
CYFIP2 Epileptic encephalopathy, early infantile, 65
DENND5A Epileptic encephalopathy, early infantile, 49
DEPDC5 Epilepsy, familial focal, with variable foci 1
DHFR Megaloblastic anemia due to dihydrofolate reductase deficiency
D2HGDH D-2-hydroxyglutaric aciduria
DNAJC5 Ceroid lipofuscinosis, neuronal, 4, Parry type
DNM1 Epileptic encephalopathy, early infantile, 31
DNM1L Encephalopathy, lethal,
due to defective mitochondrial peroxisomal fission 1
DOCK7 Epileptic encephalopathy, early infantile, 23
DYRK1A Mental retardation, autosomal dominant 7
EEF1A2 Epileptic encephalopathy, early infantile, 33;
Mental retardation, autosomal dominant 38
EFHC1 Epilepsy, juvenile absence, susceptibility to, 1;
Myoclonic epilepsy, juvenile, susceptibility to, 1
EPM2A Epilepsy, progressive myoclonic 2A
ETHE1 Ethylmalonic encephalopathy
FGF12 Epileptic encephalopathy, early infantile, 47
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
FOLR1 Neurodegeneration due to cerebral folate transport deficiency
FOXG1 Rett syndrome, congenital variant
FRRS1L Epileptic encephalopathy, early infantile, 37
GABBR2 Epileptic encephalopathy, early infantile, 59;
Neurodevelopmental disorder with poor language and loss of hand skills
GABRA1 Epileptic encephalopathy, early infantile, 19;
Epilepsy, childhood absence, susceptibility to, 4
GABRB1 Epileptic encephalopathy, early infantile, 45
GABRB2 Epileptic encephalopathy, infantile or early childhood, 2
GABRB3 Epileptic encephalopathy, early infantile, 43;
Epilepsy, childhood absence, susceptibility to, 5
GABRD Epilepsy, idiopathic generalized, 10
GABRG2 Epilepsy, generalized, with febrile seizures plus, type 3;
Epilepsy, childhood absence, susceptibility to, 2
GAMT Cerebral creatine deficiency syndrome 2
GATM Cerebral creatine deficiency syndrome 3
GLDC Glycine encephalopathy
GNAO1 Epileptic encephalopathy, early infantile, 17;
Neurodevelopmental disorder with involuntary movements
GOSR2 Epilepsy, progressive myoclonic 6;
GPHN Molybdenum cofactor deficiency C
GRIN1 Neurodevelopmental disorder with or without hyperkinetic
movements and seizures, autosomal dominant;
Neurodevelopmental disorder with or without hyperkinetic
movements and seizures, autosomal recessive
GRIN2A Epilepsy, focal, with speech disorder and with or
without mental retardation
GRIN2B Epileptic encephalopathy, early infantile, 27;
Mental retardation, autosomal dominant 6
GRIN2D Epileptic encephalopathy, early infantile, 46
HCN1 Epileptic encephalopathy, early infantile, 24
HNRNPU Epileptic encephalopathy, early infantile, 54
HUWE1 Mental retardation, X-linked syndromic, Turner type
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
ITPA Epileptic encephalopathy, early infantile, 35
IQSEC2 Mental retardation, X-linked 1/78
KANSL1 Koolen-De Vries syndrome
KCNA1 Episodic ataxia/myokymia syndrome
KCNA2 Epileptic encephalopathy, early infantile, 32
KCNB1 Epileptic encephalopathy, early infantile, 26
KCNC1 Epilepsy, progressive myoclonic 7
KCNH1 Temple-Baraitser syndrome; Zimmermann-Laband syndrome 1
KCNJ10 Enlarged vestibular aqueduct, digenic; SESAME syndrome
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3,
with or without generalized epilepsy;
Cerebellar atrophy, developmental delay, and seizures
KCNQ2 Epileptic encephalopathy, early infantile, 7;
Seizures, benign neonatal, 1
KCNQ3 Seizures, benign neonatal, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5;
Epileptic encephalopathy, early infantile, 14
KCNT2 Epileptic encephalopathy, early infantile, 57
KCTD7 Epilepsy, progressive myoclonic 3, with or
without intracellular inclusions
KIF1A Mental retardation, autosomal dominant 9;
Neuropathy, hereditary sensory, type IIC;
Spastic paraplegia 30, autosomal recessive
KIF5C Cortical dysplasia, complex,
with other brain malformations 2
LGI1 Epilepsy, familial temporal lobe, 1
LIAS Hyperglycinemia, lactic acidosis, and seizures
MBD5 Mental retardation, autosomal dominant 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MDH2 Epileptic encephalopathy, early infantile, 51
MECP2 Encephalopathy, neonatal severe;
Mental retardation, X-linked syndromic, Lubs type;
Mental retardation, X-linked, syndromic 13; Rett syndrome
MEF2C Mental retardation, stereotypic movements, epilepsy,
and/or cerebral malformations
MFSD8 Ceroid lipofuscinosis, neuronal, 7;
Macular dystrophy with central cone involvement
MOCS1 Molybdenum cofactor deficiency A
MOCS2 Molybdenum cofactor deficiency B
MTHFR Homocystinuria due to MTHFR deficiency;
Neural tube defects, susceptibility to; Schizophrenia, susceptibility to;
Thromboembolism, susceptibility to
MTOR Smith-Kingsmore syndrome
NACC1 Neurodevelopmental disorder with epilepsy, cataracts,
feeding difficulties, and delayed brain myelination
NECAP1 Epileptic encephalopathy, early infantile, 21
NEUROD2 Epileptic encephalopathy, early infantile, 72
NEXMIF Mental retardation, X-linked 98
NGLY1 Congenital disorder of deglycosylation
NHLRC1 Epilepsy, progressive myoclonic 2B
NOL3 Myoclonus, familial cortical
NPRL2 Epilepsy, familial focal, with variable foci 2
NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome
NRXN1 Pitt-Hopkins-like syndrome 2
PCDH19 Epileptic encephalopathy, early infantile, 9
PHACTR1 Epileptic encephalopathy, early infantile, 70
PIGB Epileptic encephalopathy, early infantile, 80
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1
PIGO Hyperphosphatasia with mental retardation syndrome 2
PIGP Epileptic encephalopathy, early infantile, 55
PIGQ Epileptic encephalopathy, early infantile, 77
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB1 Epileptic encephalopathy, early infantile, 12
PLPBP Epilepsy, early-onset, vitamin B6-dependent
PNKP Microcephaly, seizures, and developmental delay;
Ataxia-oculomotor apraxia 4
PNPO Pyridoxamine 5′-phosphate oxidase deficiency
POLG Mitochondrial DNA depletion syndrome 4A;
Mitochondrial DNA depletion syndrome 4B;
Mitochondrial recessive ataxia syndrome;
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1
PPP3CA Epileptic encephalopathy, infantile or early childhood, 1;
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
PPT1 Ceroid lipofuscinosis, neuronal, 1
PRDM8 Epilepsy, progressive myoclonic, 10
PRICKLE1 Epilepsy, progressive myoclonic 1B
PRICKLE2 Epilepsy, progressive myoclonic 5
PRRT2 Seizures, benign familial infantile, 2;
Episodic kinesigenic dyskinesia 1;
Convulsions, familial infantile, with paroxysmal choreoathetosis
PURA Mental retardation, autosomal dominant 31
QARS Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
RBFOX1 Rolandic epilepsy
RBFOX3 Rolandic epilepsy
RELN Lissencephaly 2; Epilepsy, familial temporal lobe, 7
RNASEH2B Aicardi-Goutieres syndrome 2
ROGDI Kohlschutter-Tonz syndrome
SATB2 Glass syndrome
SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure
SCN1A Epilepsy, generalized, with febrile seizures plus, type 2;
Epileptic encephalopathy, early infantile, 6;
Migraine, familial hemiplegic, 3
SCN3A Epilepsy, familial focal, with variable foci 4;
Epileptic encephalopathy, early infantile, 62
SCN1B Epilepsy, generalized, with febrile seizures plus, type 1;
Epileptic encephalopathy, early infantile, 52
SCN2A Epileptic encephalopathy, early infantile, 11;
Seizures, benign familial infantile, 3
SCN8A Epileptic encephalopathy, early infantile, 13;
Seizures, benign familial infantile, 5;
Cognitive impairment with or without cerebellar ataxia
SCN9A Epilepsy, generalized, with febrile seizures plus, type 7;
Erythermalgia, primary; HSAN2D, autosomal recessive;
Paroxysmal extreme pain disorder
SERAC1 3-methylglutaconic aciduria with deafness,
encephalopathy, and Leigh-like syndrome
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies
SIK1 Epileptic encephalopathy, early infantile, 30
SLC1A2 Epileptic encephalopathy, early infantile, 41
SLC12A5 Epileptic encephalopathy, early infantile, 34;
Epilepsy, idiopathic generalized, susceptibility to, 14
SLC13A5 Epileptic encephalopathy, early infantile, 25
SLC25A22 Epileptic encephalopathy, early infantile, 3
SLC2A1 GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects;
Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12
SLC6A1 Myoclonic-atonic epilepsy
SLC6A8 Cerebral creatine deficiency syndrome 1
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
SLC19A3 Thiamine metabolism dysfunction syndrome 2
(biotin- or thiamine-responsive encephalopathy type 2)
SLC35A2 Congenital disorder of glycosylation, type IIm
SLC35A3 Arthrogryposis, mental retardation, and seizures
SMARCA2 Nicolaides-Baraitser syndrome
SMC1A Congenital muscular hypertrophy-cerebral syndrome
SNAP25 Myasthenic syndrome, congenital, 18
SNIP1 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
SNX27 Severe myoclonic epilepsy in infancy
SPATA5 Epilepsy, hearing loss, and mental retardation syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
SRPX2 Rolandic epilepsy, mental retardation, and speech dyspraxia
ST3GAL3 Epileptic encephalopathy, early infantile, 15;
Mental retardation, autosomal recessive 12
ST3GAL5 Salt and pepper developmental regression syndrome
STX1B Generalized epilepsy with febrile seizures plus, type 9
STXBP1 Epileptic encephalopathy, early infantile, 4
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
SYNGAP1 Mental retardation, autosomal dominant 5
SYNJ1 Epileptic encephalopathy, early infantile, 53;
Parkinson disease 20, early-onset
SYP Mental retardation, X-linked 96
SZT2 Epileptic encephalopathy, early infantile, 18
TBCD Encephalopathy, progressive, early-onset,
with brain atrophy and thin corpus callosum
TBC1D24 Epileptic encephalopathy, early infantile, 16;
Myoclonic epilepsy, infantile, familial; DOORS syndrome
TBCE Encephalopathy, progressive, with amyotrophy and optic atrophy
TBCK Hypotonia, infantile,
with psychomotor retardation and characteristic facies 3
TCF4 Pitt-Hopkins syndrome
TSC1 Tuberous sclerosis-1
TSC2 Tuberous sclerosis-2
TPP1 Ceroid lipofuscinosis, neuronal, 2; Spinocerebellar ataxia, autosomal recessive 7
TRAK1 Epileptic encephalopathy, early infantile, 68
TTC19 Mitochondrial complex III deficiency, nuclear type 2
TUBB3 Cortical dysplasia, complex, with other brain malformations 1;
Fibrosis of extraocular muscles, congenital, 3A
UBA5 Epileptic encephalopathy, early infantile, 44;
Spinocerebellar ataxia, autosomal recessive 24
UBE3A Angelman syndrome
WASF1 Neurodevelopmental disorder with absent language
and variable seizures
WDR45 Neurodegeneration with brain iron accumulation 5
WWOX Epileptic encephalopathy, early infantile, 28;
Spinocerebellar ataxia, autosomal recessive 12
ZDHHC9 Mental retardation, X-linked syndromic, Raymond type
ZEB2 Mowat-Wilson syndrome

List of diseases covered by Dystonia NGS panel

Published 11/05/2018

List of diseases covered by
Dystonia NGS panel

Gene Condition
ACTB Dystonia, juvenile-onset; Baraitser-Winter syndrome 1
ADCY5 Dyskinesia, familial, with facial myokymia
ANO3 Dystonia 24
ARSA Metachromatic leukodystrophy
ATM Ataxia-telangiectasia
ATP1A3 Dystonia-12; Alternating hemiplegia of childhood 2; CAPOS syndrome
ATP7B Wilson disease
CACNA1B Dystonia 23
COL6A3 Dystonia 27; Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1
GCDH Glutaricaciduria, type I
GCH1 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;
Hyperphenylalaninemia, BH4-deficient, B
GNAL Dystonia 25
GNAO1 Neurodevelopmental disorder with involuntary movements;
Epileptic encephalopathy, early infantile, 17
HPCA Dystonia 2, torsion, autosomal recessive
KCNMA1 Cerebellar atrophy, developmental delay, and seizures;
Paroxysmal nonkinesigenic dyskinesia, 3,
with or without generalized epilepsy
KCTD17 Dystonia 26, myoclonic
KMT2B Dystonia 28, childhood-onset
MECR Dystonia, childhood-onset,
with optic atrophy and basal ganglia abnormalities
PANK2 HARP syndrome; Neurodegeneration with brain iron accumulation 1
PLA2G6 Infantile neuroaxonal dystrophy 1;
Neurodegeneration with brain iron accumulation 2B;
Parkinson disease 14, autosomal recessive
PNKD Paroxysmal nonkinesigenic dyskinesia 1
PRKN Parkinson disease, juvenile, type 2
PRKRA Dystonia 16
PRRT2 Episodic kinesigenic dyskinesia 1;
Convulsions, familial infantile, with paroxysmal choreoathetosis;
Seizures, benign familial infantile, 2
RELN Lissencephaly 2 (Norman-Roberts type); Epilepsy, familial temporal lobe, 7
SGCE Dystonia-11, myoclonic
SLC2A1 Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects;
Epilepsy, idiopathic generalized, susceptibility to, 12
SLC6A3 Parkinsonism-dystonia, infantile
SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria
SLC30A10 Hypermanganesemia with dystonia 1
SLC39A14 Hypermanganesemia with dystonia 2
SPR Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
TAF1 Dystonia-Parkinsonism, X-linked;
Mental retardation, X-linked, syndromic 33
TBCE Encephalopathy, progressive,
with amyotrophy and optic atrophy;
Hypoparathyroidism-retardation-dysmorphism syndrome;
Kenny-Caffey syndrome, type 1
TH Segawa syndrome, recessive
THAP1 Dystonia 6, torsion
TIMM8A Mohr-Tranebjaerg syndrome
TOR1A Dystonia-1, torsion
TUBB4A Dystonia 4, torsion, autosomal dominant;
Leukodystrophy, hypomyelinating, 6

List of diseases covered by Cornelia de Lange Syndrome NGS panel

Published 10/05/2018

List of diseases covered by
Cornelia de Lange Syndrome NGS panel

Gene Condition
AFF4 CHOPS syndrome
ANKRD11 KBG syndrome
HDAC8 Cornelia de Lange syndrome 5
KMT2A Wiedemann-Steiner syndrome
NIPBL Cornelia de Lange syndrome 1
RAD21 Cornelia de Lange syndrome 4
SMC3 Cornelia de Lange syndrome 3
SMC1A Cornelia de Lange syndrome 2
TAF6 Alazami-Yuan syndrome

List of diseases covered by Parkinson Disease NGS panel

Published 06/04/2018

List of diseases covered by
Parkinson’s Disease NGS panel

Gene Condition
ADH1C Parkinson disease, susceptibility to
ATP1A3 Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12
ATP13A2 Parkinson disease 9;
Spastic paraplegia 78, autosomal recessive
ATP6AP2 Parkinsonism with spasticity, X-linked;
Mental retardation, X-linked, syndromic, Hedera type
ATXN2 Parkinson disease, late-onset, susceptibility to;
Spinocerebellar ataxia 2
CHCHD2 Parkinson disease 22, autosomal dominant
DCTN1 Neuropathy, distal hereditary motor, type VIIB; Perry syndrome;
Amyotrophic lateral sclerosis, susceptibility to
DNAJC6 Parkinson disease 19a, juvenile-onset
EIF4G1 Parkinson disease 18
FBXO7 Parkinson disease 15, autosomal recessive
FTL Neurodegeneration with brain iron accumulation 3;
Hyperferritinemia-cataract syndrome;
L-ferritin deficiency, dominant and recessive
GBA Parkinson disease, late-onset, susceptibility to;
Lewy body dementia, susceptibility to; Gaucher disease, type I;
Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIc;
Gaucher disease, perinatal lethal
GCH1 Dystonia, DOPA-responsive,
with or without hyperphenylalaninemia; Hyperphenylalaninemia, BH4-deficient, B
GIGYF2 Parkinson disease 11
HTRA2 Parkinson disease 13;
3-methylglutaconic aciduria, type VIII
LRRK2 Parkinson disease 8
MAPT Dementia, frontotemporal, with or without parkinsonism;
Parkinson disease, susceptibility to; Pick disease;
Supranuclear palsy, progressive; Supranuclear palsy, progressive atypical
PARK7 Parkinson disease 7, autosomal recessive early-onset
PINK1 Parkinson disease 6, early onset
PLA2G6 Parkinson disease 14, autosomal recessive;
Neurodegeneration with brain iron accumulation 2B;
Infantile neuroaxonal dystrophy 1
PRKN Parkinson disease, juvenile, type 2
PRKRA Dystonia 16
RAB39B Mental retardation, X-linked 72; Waisman syndrome
SLC6A3 Parkinsonism-dystonia, infantile
SLC30A10 Hypermanganesemia with dystonia 1
SNCA Parkinson disease 1; Parkinson disease 4;
Dementia, Lewy body
SNCB Dementia, Lewy body
SPG11 Amyotrophic lateral sclerosis 5, juvenile;
Charcot-Marie-Tooth disease, axonal, type 2X;
Spastic paraplegia 11, autosomal recessive
SPR Dystonia, dopa-responsive,
due to sepiapterin reductase deficiency
SYNJ1 Parkinson disease 20, early-onset;
Epileptic encephalopathy, early infantile, 53
TAF1 Dystonia-Parkinsonism, X-linked;
Mental retardation, X-linked, syndromic 33
TBP Parkinson disease, susceptibility to;
Spinocerebellar ataxia 17
TH Segawa syndrome, recessive
UCHL1 Parkinson disease 5, susceptibility to;
Spastic paraplegia 79, autosomal recessive
VPS35 Parkinson disease 17
VPS13C Parkinson disease 23, autosomal recessive, early onset

List of diseases covered by Usher Syndrome NGS panel

Published 05/04/2018

List of diseases covered by Usher Syndrome NGS panel

Gene Condition
ABHD12 Polyneuropathy, hearing loss,
ataxia, retinitis pigmentosa, and cataract
ADGRV1 Usher syndrome, type 2C
CDH23 Usher syndrome, type 1D;
Deafness, autosomal recessive 12
CIB2 Usher syndrome, type IJ;
Deafness, autosomal recessive 48
CLRN1 Usher syndrome, type 3A;
Retinitis pigmentosa 61
COL4A6 Deafness, X-linked 6
DSPP Deafness, autosomal dominant 39,
with dentinogenesis
GIPC3 Deafness, autosomal recessive 15
HARS1 Usher syndrome type 3B
KARS1 Deafness, autosomal recessive 89
LHFPL5 Deafness, autosomal recessive 67
LOXHD1 Deafness, autosomal recessive 77
MYO7A Usher syndrome, type 1B;
Deafness, autosomal recessive 2; Deafness, autosomal dominant 11
PCDH15 Usher syndrome, type 1F;
Usher syndrome, type 1D/F digenic;
Deafness, autosomal recessive 23
PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic
TNC Deafness, autosomal dominant 56
USH2A Usher syndrome, type 2A; Retinitis pigmentosa 39
USH1C Usher syndrome, type 1C;
Deafness, autosomal recessive 18A
USH1G Usher syndrome, type 1G
WHRN Usher syndrome, type 2D;
Deafness, autosomal recessive 31

List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel

Published 04/04/2018

List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel

Gene Condition
AP3B1 Hermansky-Pudlak syndrome 2
AP3D1 Hermansky-Pudlak syndrome 10
BLOC1S3 Hermansky-Pudlak syndrome 8
BLOC1S5 Hermansky-Pudlak syndrome
BLOC1S6 Hermansky-pudlak syndrome 9
CACNA1F Aland Island eye disease; Cone-rod dystrophy, X-linked, 3;
Night blindness, congenital stationary (incomplete), 2A, X-linked
DTNBP1 Hermansky-Pudlak syndrome 7
GPR143 Nystagmus 6, congenital, X-linked;
Ocular albinism, type I, Nettleship-Falls type
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
LRMDA Albinism, oculocutaneous, type VII
LYST Chediak-Higashi syndrome
MC1R Skin/hair/eye pigmentation 2, blond hair/fair skin;
Albinism, oculocutaneous, type II, modifier of;
Melanoma, cutaneous malignant, 5;
OCA2 Albinism, oculocutaneous, type II
RAB27A Griscelli syndrome, type 2
SLC24A5 Albinism, oculocutaneous, type VI
SLC45A2 Albinism, oculocutaneous, type IV
TYR Albinism, oculocutaneous, type IA;
Albinism, oculocutaneous, type IB;
Waardenburg syndrome/albinism, digenic
TYRP1 Albinism, oculocutaneous, type III

List of diseases covered by Corneal Dystrophy NGS panel

Published 02/04/2018

List of diseases covered by
Corneal Dystrophy NGS panel

Gene Condition
CHST6 Macular corneal dystrophy
COL5A1 Ehlers-Danlos syndrome, classic type, 1
COL17A1 Epithelial recurrent erosion dystrophy
COL8A2 Corneal dystrophy, Fuchs endothelial, 1;
Corneal dystrophy, posterior polymorphous 2
CYP4V2 Bietti crystalline corneoretinal dystrophy
DCN Corneal dystrophy, congenital stromal
GSN Amyloidosis, Finnish type
KRT3 Meesmann corneal dystrophy
KRT12 Meesmann corneal dystrophy
LOXHD1 Deafness, autosomal recessive 77
PIKFYVE Corneal fleck dystrophy
PRDM5 Brittle cornea syndrome 2
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4;
Corneal endothelial dystrophy and perceptive deafness;
Corneal endothelial dystrophy, autosomal recessive
SOD1 Amyotrophic lateral sclerosis 1
ZEB1 Corneal dystrophy, Fuchs endothelial, 6;
Corneal dystrophy, posterior polymorphous, 3
ZNF469 Brittle cornea syndrome 1
TACSTD2 Corneal dystrophy, gelatinous drop-like
TGFBI Corneal dystrophy, Avellino type;
Corneal dystrophy, epithelial basement membrane;
Corneal dystrophy, Groenouw type I;
Corneal dystrophy, lattice type I; Corneal dystrophy, lattice type IIIA;
Corneal dystrophy, Reis-Bucklers type;
Corneal dystrophy, Thiel-Behnke type
UBIAD1 Corneal dystrophy, Schnyder type
VSX1 Keratoconus 1

List of diseases covered by Congenital Stationary Night Blindness NGS panel

Published 29/03/2018

List of diseases covered by
Congenital Stationary Night Blindness NGS panel

Gene Condition
CABP4 Cone-rod synaptic disorder, congenital nonprogressive
CACNA1F Aland Island eye disease;
Cone-rod dystrophy, X-linked, 3;
Night blindness, congenital stationary (incomplete), 2A, X-linked
CHM Choroideremia
GNAT1 Night blindness, congenital stationary, autosomal dominant 3;
Night blindness, congenital stationary, type 1G
GRK1 Oguchi disease-2
GRM6 Night blindness, congenital stationary (complete), 1B,
autosomal recessive
NYX Night blindness, congenital stationary (complete), 1A,
X-linked
PDE6B Night blindness, congenital stationary,
autosomal dominant 2; Retinitis pigmentosa-40
RDH5 Fundus albipunctatus
RHO Night blindness, congenital stationary,
autosomal dominant 1;
Retinitis pigmentosa 4, autosomal dominant or recessive;
Retinitis punctata albescens
SAG Oguchi disease-1; Retinitis pigmentosa 47
SLC24A1 Night blindness, congenital stationary (complete), 1D,
autosomal recessive
TRPM1 Night blindness, congenital stationary (complete), 1C,
autosomal recessive

Hemochromatosis NGS panel

Published 01/03/2018

Hemochromatosis NGS panel

Genes
(full coding
region):		 HAMP, HFE, HJV, SLC40A1, TFR2

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Limb-Girdle Muscular Dystrophy NGS panel

Published 01/03/2018

Limb-Girdle Muscular Dystrophy
NGS panel

Genes
(full coding
region):		 ANO5, BVES, CAPN3, CAV3, CRPPA, DAG1, DES, DMD, DNAJB6, DOK7, DYSF, FKRP, FKTN, GAA, GMPPB, HNRNPDL, LAMA2, LIMS2, LMNA, MYOT, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN

List of diseases covered by the panel
Non-coding variants: List of non-coding variants covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ANO5, CAPN3, DYSF, FKRP, LCAV3, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, ZMPSTE24
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Vitreoretinopathy NGS panel

Published 27/02/2018

Vitreoretinopathy NGS panel

Genes
(full coding
region):		 ATOH7, BEST1, CAPN5, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

List of diseases covered by Arrhythmia NGS panel

Published 21/02/2018

List of diseases covered by Arrhythmia NGS panel

Gene Condition
ABCC9 Atrial fibrillation, familial, 12; Dilated cardiomyopathy 1O
AKAP9 Long QT syndrome 11
ANK2 Cardiac arrhythmia, ankyrin B-related
CACNA1C Brugada syndrome 3
CACNB2 Brugada syndrome 4
CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2
CAV3 Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9
DES Dilated cardiomyopathy 1I
DSC2 Arrhythmogenic right ventricular cardiomyopathy, type 11
DSG2 Arrhythmogenic right ventricular cardiomyopathy, type 10;
Dilated cardiomyopathy 1BB
DSP Arrhythmogenic right ventricular cardiomyopathy, type 8;
Cardiomyopathy dilated with woolly hair and keratoderma;
Cardiomyopathy, dilated, with woolly hair, keratoderma,
and tooth agenesis
FLNC Arrhythmogenic right ventricular dysplasia, familial;
Cardiomyopathy, familial hypertrophic, 26;
Cardiomyopathy, familial restrictive 5;
Myopathy, distal, 4;
Myopathy, myofibrillar, 5
GJA5 Atrial fibrillation, familial, 11; Atrial standstill 1
GPD1L Brugada syndrome 2
HCN4 Brugada syndrome 8;
Sick sinus syndrome 2, autosomal dominant
JUP Arrhythmogenic right ventricular cardiomyopathy, type 12;
Naxos disease
KCNA5 Atrial fibrillation, familial, 7
KCND3 Brugada syndrome 9
KCNE1 Long QT syndrome 5;
Jervell and Lange-Nielsen syndrome 2
KCNE2 Atrial fibrillation, familial, 4;
Long QT syndrome 6
KCNE3 Brugada syndrome 6
KCNH2 Long QT syndrome 2; Short QT syndrome 1
KCNJ2 Andersen Tawil syndrome;
Atrial fibrillation, familial, 9; Short QT syndrome 3
KCNJ8 Cantu syndrome, KCNJ8 related
KCNQ1 Atrial fibrillation, familial, 3;
Jervell and Lange-Nielsen syndrome 1; Long QT syndrome 1;
Short QT syndrome 2
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
NKX2-5 Atrial septal defect 7 with or without
atrioventricular conduction defect;
Conotruncal heart malformations; Hypoplastic left heart syndrome 2;
Ventricular septal defect 3
NPPA Atrial fibrillation, familial, 6; Atrial standstill 2
PKP2 Arrhythmogenic right ventricular cardiomyopathy, type 9
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
RYR2 Arrhythmogenic right ventricular dysplasia, familial, 2;
Catecholaminergic polymorphic ventricular tachycardia type 1
SCN1B Atrial fibrillation, familial, 13; Brugada syndrome 5
SCN2B Atrial fibrillation, familial, 14
SCN3B Brugada syndrome 7
SCN4B Long QT syndrome 10
SCN5A Atrial fibrillation, familial, 10; Brugada syndrome 1;
Dilated cardiomyopathy 1E; Long QT syndrome 3;
Sick sinus syndrome 1, autosomal recessive;
Paroxysmal familial ventricular fibrillation 1
SNTA1 Long QT syndrome 12
TGFB3 Arrhythmogenic right ventricular dysplasia, familial 1
TMEM43 Arrhythmogenic right ventricular cardiomyopathy, type 5

List of diseases covered by Hereditary Sideroblastic Anemia NGS panel

Published 02/02/2018

List of diseases covered by
Hereditary Sideroblastic Anemia NGS panel

Gene Condition
ABCB7 Anemia sideroblastic and spinocerebellar ataxia
ALAS2 Hereditary sideroblastic anemia
GLRX5 Sideroblastic anemia 3, pyridoxine-refractory
HSPA9 Anemia, sideroblastic, 4
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1
SLC19A2 Megaloblastic anemia, thiamine-responsive,
with diabetes mellitus and sensorineural deafness
SLC25A38 Anemia, sideroblastic, pyridoxine-refractory,
autosomal recessive
TRNT1 Sideroblastic anemia with B-cell immunodeficiency,
periodic fevers, and developmental delay;
Retinitis pigmentosa and erythrocytic microcytosis
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2

List of diseases covered by Leukodystrophy and Leukoencephalopathy NGS panel

Published 31/01/2018

List of diseases covered by
Leukodystrophy and Leukoencephalopathy NGS panel

Gene Condition
ABCD1 Adrenoleukodystrophy
ADAR Aicardi-goutieres syndrome 6
AIMP1 Leukodystrophy, hypomyelinating 3
ARSA Metachromatic leukodystrophy
ASPA Spongy degeneration of central nervous system
CLCN2 Leukoencephalopathy with ataxia
CSF1R Hereditary diffuse leukoencephalopathy with spheroids
CYP27A1 Cerebrotendinous xanthomatosis
DARS2 Leukoencephalopathy with Brainstem and
Spinal Cord Involvement and Lactate Elevation
EARS2 Combined oxidative phosphorylation deficiency 12
EIF2B1 Leukoencephalopathy with vanishing white matter
EIF2B2 Leukoencephalopathy with vanishing white matter
EIF2B3 Leukoencephalopathy with vanishing white matter
EIF2B4 Leukoencephalopathy with vanishing white matter
EIF2B5 Leukoencephalopathy with vanishing white matter
FAM126A Leukodystrophy, hypomyelinating, 5
FOLR1 Cerebral folate deficiency
GALC Galactosylceramide beta-galactosidase deficiency
GFAP Alexander disease
GJC2 Leukodystrophy, hypomyelinating, 2;
Spastic paraplegia 44, autosomal recessive
HEPACAM Megalencephalic leukoencephalopathy
with subcortical cysts 2a; Megalencephalic leukoencephalopathy
with subcortical cysts 2b, remitting, with or without mental retardation
HSPD1 Leukodystrophy, hypomyelinating, 4;
Spastic paraplegia 13
HTRA1 Cerebral arteriopathy, autosomal dominant,
with subcortical infarcts and leukoencephalopathy, type 2;
Cerebral autosomal recessive arteriopathy
with subcortical infarcts and leukoencephalopathy
L2HGDH L-2-hydroxyglutaric aciduria
LMNB1 Leukodystrophy, adult-onset, autosomal dominant
MAN2B1 Mannosidosis, alpha-, types I and II
MLC1 Megalencephalic leukoencephalopathy
with subcortical cysts 1
MTHFR Homocystinuria due to MTHFR deficiency
NOTCH3 Cerebral autosomal dominant arteriopathy
with subcortical infarcts and leukoencephalopathy; Lehman syndrome
PLP1 Pelizaeus-Merzbacher disease;
Spastic paraplegia 2
POLR3A Hypomyelinating leukodystrophy 7
POLR3B Hypomyelinating leukodystrophy 8,
with or without oligodontia and/or hypogonadotropic hypogonadism
PSAP Sphingolipid activator protein 1 deficiency;
Combined saposin deficiency; Gaucher disease, atypical,
due to saposin C deficiency;
Krabbe disease atypical due to Saposin A deficiency
RNASEH2A Aicardi Goutieres syndrome 4
RNASEH2B Aicardi Goutieres syndrome 2
RNASEH2C Aicardi Goutieres syndrome 3
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
SAMHD1 Aicardi Goutieres syndrome 5
SCP2 Leukoencephalopathy with dystonia and motor neuropathy
SOX10 Peripheral demyelinating neuropathy,
central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Waardenburg syndrome type 2E
Waardenburg syndrome type 4C
SUMF1 Multiple sulfatase deficiency
TREX1 Aicardi Goutieres syndrome 1;
Vasculopathy, retinal, with cerebral leukodystrophy
TUBB4A Leukodystrophy, hypomyelinating, 6;
Dystonia 4, torsion, autosomal dominant

List of diseases covered by Congenital Myopathy and Distal Myopathy NGS panel

Published 26/01/2018

List of diseases covered by
Congenital Myopathy and Distal Myopathy NGS panel

Gene Condition
ACTA1 Congenital myopathy with fiber type disproportion;
Myopathy, scapulohumeroperoneal; Nemaline myopathy 3
ANO5 Limb-girdle muscular dystrophy, type 2L;
Miyoshi muscular dystrophy 3; Gnathodiaphyseal dysplasia
BAG3 Dilated cardiomyopathy 1HH; Myofibrillar myopathy, BAG3-related
BIN1 Autosomal recessive centronuclear myopathy
CAV3 Distal myopathy, Tateyama type;
Limb-girdle muscular dystrophy, type 1C; Rippling muscle disease;
Familial hypertrophic cardiomyopathy 1
CCDC78 Myopathy, centronuclear, 4
CFL2 Nemaline myopathy 7
CNTN1 Myopathy, congenital, compton-north
COL6A1 Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1
COL6A3 Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27
COL12A1 Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2
CRYAB Alpha-B crystallinopathy;
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related;
Dilated cardiomyopathy 1II
DES Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2r;
Dilated cardiomyopathy 1I; Scapuloperoneal syndrome, neurogenic, Kaeser type
DNAJB6 Limb-girdle muscular dystrophy, type 1E
DNM2 Myopathy, centronuclear, 1;
DNM2-related intermediate Charcot-Marie-Tooth neuropathy;
Lethal congenital contracture syndrome 5
DYSF Myopathy, distal, with anterior tibial onset; Miyoshi muscular dystrophy 1;
Limb-girdle muscular dystrophy, type 2B
FHL1 Myopathy, reducing body, X-linked, early-onset, severe;
Myopathy, reducing body, X-linked, childhood-onset;
Scapuloperoneal myopathy, X-linked dominant;
Myopathy with postural muscle atrophy, X-linked
FLNC Myopathy, distal, 4; Myofibrillar myopathy, filamin C-related;
Cardiomyopathy, familial hypertrophic, 26
GNE Nonaka myopathy
KLHL40 Nemaline myopathy 8
KLHL41 Nemaline myopathy 9
LDB3 Myofibrillar myopathy, ZASP-related; Primary dilated cardiomyopathy
LMOD3 Nemaline myopathy 10
MATR3 Amyotrophic lateral sclerosis 21
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
MICU1 Myopathy with extrapyramidal signs
MTM1 Severe X-linked myotubular myopathy
MTMR14 Myopathy, centronuclear, 1
MYF6 Myopathy, centronuclear, 3
MYH7 Myosin storage myopathy; Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal myopathy, MYH7-related; Myopathy, distal, 1;
Dilated cardiomyopathy 1S; Familial hypertrophic cardiomyopathy 1
MYOT Spheroid body myopathy; Myotilinopathy;
Limb-girdle muscular dystrophy, type 1A
NEB Nemaline myopathy 2
RYR1 Minicore myopathy with external ophthalmoplegia;
Central core disease; Malignant hyperthermia, susceptibility to, 1
SELENON Congenital myopathy with fiber type disproportion;
Eichsfeld type congenital muscular dystrophy
STAC3 Native American myopathy
SQSTM1 Distal myopathy with rimmed vacuoles;
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
TIA1 Welander distal myopathy
TNNT1 Nemaline myopathy 5
TPM2 Nemaline myopathy 4;
Arthrogryposis multiplex congenita distal type 1; Distal arthrogryposis type 2B
TPM3 Nemaline myopathy 1; Congenital myopathy with fiber type disproportion
TTN Hereditary myopathy with early respiratory failure;
Myopathy, early-onset, with fatal cardiomyopathy;
Distal myopathy Markesbery-Griggs type;
Limb-girdle muscular dystrophy, type 2J;
Familial hypertrophic cardiomyopathy 9; Dilated cardiomyopathy 1G
VCP Inclusion body myopathy with early-onset
paget disease and frontotemporal dementia;
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
Charcot-Marie-Tooth disease, axonal, type 2y

List of diseases covered by Autosomal Dominant Retinitis Pigmentosa NGS panel

Published 25/01/2018

List of diseases covered by
Autosomal Dominant Retinitis Pigmentosa NGS panel

Gene Condition
AIPL1 Juvenile retinitis pigmentosa, AIPL1-related
BEST1 Retinitis pigmentosa 50
CA4 Retinitis pigmentosa 17
CRX Retinitis pigmentosa; Cone-rod dystrophy 2; Leber congenital amaurosis 7
FSCN2 Retinitis pigmentosa 30
GUCA1B Retinitis pigmentosa 48
IMPDH1 Retinitis pigmentosa 10
KLHL7 Retinitis pigmentosa 42
NR2E3 Retinitis pigmentosa 37
NRL Retinitis pigmentosa 27
PRKCG Retinitis pigmentosa 11
PRPF3 Retinitis pigmentosa 18
PRPF6 Retinitis pigmentosa 60
PRPF8 Retinitis pigmentosa 13
PRPF31 Retinitis pigmentosa 11
PRPH2 Retinitis pigmentosa 7
RDH12 Leber congenital amaurosis 13
RGR Retinitis pigmentosa 44
RHO Retinitis pigmentosa 4
ROM1 Retinitis pigmentosa 7, digenic
RP1 Retinitis pigmentosa 1
RP9 Retinitis pigmentosa 9
RPE65 Retinitis pigmentosa 20
SEMA4A Retinitis pigmentosa 35
SNRNP200 Retinitis pigmentosa 33
TOPORS Retinitis pigmentosa 31

List of diseases covered by Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis

Published 25/01/2018

List of diseases covered by
Anophthalmia/Microphthalmia/Coloboma/
Anterior Segment Dysgenesis NGS panel

Gene Condition
ABCB6 Microphthalmia, isolated, with coloboma 7
ALDH1A3 Microphthalmia, isolated 8
ASPH Facial dysmorphism, lens dislocation,
anterior segment abnormalities, and spontaneous filtering blebs
BCOR Oculofaciocardiodental syndrome
B3GLCT Peters plus syndrome
BMP4 Microphthalmia syndromic 6
CHD7 CHARGE association
COL4A1 Brain small vessel disease with hemorrhage
CYP1B1 Anterior segment dysgenesis 6
EYA1 Anterior segment anomalies with or without cataract
FOXC1 Anterior segment dysgenesis 3
FOXE3 Aphakia, congenital primary
GDF3 Microphthalmia, isolated 7; Microphthalmia, isolated, with coloboma 6
GDF6 Microphthalmia, isolated 4
HCCS Linear skin defects with multiple congenital anomalies 1
HESX1 Septo-optic dysplasia sequence
HMGB3 Microphthalmia, syndromic 13
LTBP2 Microspherophakia
MAB21L2 Microphthalmia/coloboma and skeletal dysplasia syndrome
MFRP Microphthalmia, isolated 5
OTX2 Microphthalmia syndromic 5
PAX6 Optic nerve hypoplasia, bilateral
PITX2 Iridogoniodysgenesis, dominant type
PRSS56 Microphthalmia, isolated 6
RARB Microphthalmia, syndromic 12
RAX Microphthalmia, isolated 3
SIX6 Optic disc anomalies with retinal and/or macular dystrophy
SLC38A8 Foveal hypoplasia 2
SMOC1 Microphthalmia with limb anomalies
SOX2 Microphthalmia, syndromic 3
STRA6 Microphthalmia syndromic 9
TENM3 Microphthalmia, isolated, with coloboma 9
VAX1 Microphthalmia, syndromic 11
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
VSX2 Microphthalmia, isolated 2; Microphthalmia, isolated, with coloboma 3

Congenital Myopathy and Distal Myopathy NGS panel

Published 22/01/2018

Congenital Myopathy and Distal Myopathy NGS panel has been added to Asper Neurogenetics portfolio. The new panel includes analysis of 43 genes linked to numerous types of myopathy. Learn more about test www.asperbio.com/congenital-myopathy-and-distal-myopathy

We would be very grateful for any comments on whether this panel can enhance your testing activities or additional genes/conditions should be involved in the panel. Contact us at info[at]asperbio.com and give your feedback.

Hereditary Sideroblastic Anemia NGS panel

Published 18/01/2018

Hereditary Sideroblastic Anemia NGS panel

Genes
(full coding
region):		 ABCB7, ALAS2, GLRX5, HSPA9, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Tuberous Sclerosis NGS panel

Published 17/01/2018

Tuberous Sclerosis
NGS panel

Genes
(full coding
region):		 TSC1, TSC2
Non-coding variants: List of non-coding variants covered by the panel
Lab method: NGS
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: TSC1, TSC2
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Leukodystrophy and Leukoencephalopathy NGS panel

Published 17/01/2018

Leukodystrophy and Leukoencephalopathy
NGS panel

Genes
(full coding
region):		 ABCD1, ADAR, AIMP1, ARSA, ASPA, CLCN2, CSF1R, CYP27A1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, GM2A, HEPACAM, HSPD1, HTRA1, L2HGDH, LMNB1, MAN2B1, MTHFR, MLC1, NOTCH3, NPC1, NPC2, PEX10, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SOX10, SUMF1, TREX1, TUBB4A

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ABCD1, ASPA, D2HGDH, L2HGDH, LMNB1, MLC1, MLYCD, NOTCH3, PLP1, SLC6A8
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Congenital Myopathy and Distal Myopathy NGS panel

Published 17/01/2018

Congenital Myopathy and Distal Myopathy
NGS panel

Genes
(full coding
region):		 ACTA1, ANO5, BAG3, BIN1, CAV3, CCDC78, CFL2, CNTN1, COL6A1, COL6A3, COL12A1, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, KLHL40, KLHL41, LDB3, LMOD3, MATR3, MEGF10, MICU1, MTM1, MTMR14, MYF6, MYH7, MYOT, NEB, RYR1, SELENON, STAC3, SQSTM1, TIA1, TNNT1, TPM2, TPM3, TTN, VCP

List of diseases covered by the panel
Lab method: NGS panel NGS panel with CNV
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis 

Genes: MTM1, MTMR1
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

List of diseases covered by AMD NGS panel

Published 10/01/2018

List of diseases covered by AMD NGS panel

Gene Condition
ABCA4 Stargardt disease 1; Cone-rod dystrophy 3;
Macular degeneration, age-related, 2; Retinitis pigmentosa 19;
Retinal dystrophy, early-onset severe
ARMS2 Macular degeneration, age-related, 8
C2 Macular degeneration, age-related, 14, reduced risk of
C3 Macular degeneration, age-related, 9
C9 Macular degeneration, age-related, 15, susceptibility to
CFB Macular degeneration, age-related, 14, reduced risk of;
Complement factor B deficiency
CFH Macular degeneration, age-related, 4;
Complement factor H deficiency
CFI Macular degeneration, age-related, 13, susceptibility to;
Complement factor I deficiency
CST3 Macular degeneration, age-related, 11
CX3CR1 Macular degeneration, age-related, 12
ERCC6 Macular degeneration, age-related, susceptibility to, 5
FBLN5 Macular degeneration, age-related, 3
HMCN1 Macular degeneration, age-related, 1
HTRA1 Macular degeneration, age-related, 7
RAX2 Cone-rod dystrophy 11; Macular degeneration, age-related, 6

List of diseases covered by Achromatopsia NGS panel

Published 09/01/2018

List of diseases covered by Achromatopsia NGS panel

Gene Condition
ATF6 Achromatopsia 7
CNGA3 Achromatopsia 2
CNGB3 Achromatopsia 3
GNAT2 Achromatopsia 4
PDE6C Cone dystrophy 4
PDE6H Achromatopsia 6

List of diseases covered by the NGS panel of 294 genes

Published 03/01/2018

List of diseases covered by the NGS panel of 294 genes

Gene Condition
ABCA4 Stargardt disease 1; Cone-rod dystrophy 3
ABCB6 Microphthalmia, isolated, with coloboma 7
ABCC6 Pseudoxanthoma elasticum
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ACBD5 Cone-rod dystrophy
ADAM9 Cone-rod dystrophy 9
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus
ADGRV1 Usher syndrome, type 2C
AGK Cataract, autosomal recessive congenital 5
AHI1 Joubert syndrome 3
AIPL1 Leber congenital amaurosis 4
ALMS1 Alstrom syndrome
ARL13B Joubert syndrome 8
ARL6 Bardet-Biedl syndrome 3
ATF6 Achromatopsia 7
B3GLCT Peters plus syndrome
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BCOR Oculofaciocardiodental syndrome
BEST1 Vitelliform macular dystrophy type 2;
Retinitis pigmentosa 50; Vitreoretinochoroidopathy;
Bestrophinopathy, autosomal recessive
BFSP2 Cataract, autosomal dominant, multiple types 1
BMP4 Microphthalmia syndromic 6
C19orf12 Neurodegeneration with brain iron accumulation 4
C1QTNF5 Late-onset retinal degeneration
C2orf71 Retinitis pigmentosa 54
C8orf37 Bardet-Biedl syndrome 21; Cone-rod dystrophy 16
CA4 Retinitis pigmentosa 17
CABP4 Congenital stationary night blindness, type 2B
CACNA1F Congenital stationary night blindness, type 2A
CACNA2D4 Cone-rod dystrophy X-linked 3;
Retinal cone dystrophy 4
CC2D2A Joubert syndrome 9; Meckel syndrome type 6;
COACH syndrome
CDH23 Usher syndrome, type 1D
CDH3 EEM syndrome;
Juvenile macular degeneration and hypotrichosis
CDHR1 Cone-rod dystrophy 15
CEP290 Leber congenital amaurosis 10;
Bardet-Biedl syndrome 14
CEP41 Joubert syndrome 15
CERKL Retinitis pigmentosa 26
CFAP410 Retinal dystrophy with macular staphyloma;
Spondylometaphyseal dysplasia, axial
CFH Age-related macular degeneration 4
CHM Choroideremia
CHMP4B Cataract, posterior polar, 3
CHST6 Macular corneal dystrophy type I
CIB2 Usher syndrome, type 1J
CLN3 Juvenile neuronal ceroid lipofuscinosis
CLN5 Ceroid lipofuscinosis neuronal 5
CLN6 Ceroid lipofuscinosis neuronal 6
CLN8 Ceroid lipofuscinosis neuronal 8
CLRN1 Retinitis pigmentosa 61; Usher syndrome, type 3A
CNGA1 Retinitis pigmentosa 49
CNGA3 Achromatopsia 2
CNGB1 Retinitis pigmentosa 45
CNGB3 Achromatopsia 3
CNNM4 Cone-rod dystrophy amelogenesis imperfecta
COL11A1 Stickler syndrome, type 2; Marshall syndrome
COL11A2 Stickler syndrome, type 3
COL2A1 Stickler syndrome type 1
COL8A2 Corneal dystrophy Fuchs endothelial 1;
Corneal dystrophy, posterior polymorphous, 2
COL4A1 Retinal arteries, tortuosity of
COL4A6 Deafness, X-linked 6
COL9A1 Stickler syndrome, type 4
COL9A2 Stickler syndrome, type 5
CRB1 Leber congenital amaurosis 8;
Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa 12
CRX Leber congenital amaurosis 7;
Cone-rod dystrophy 2
CRYAA Cataract, autosomal dominant
CRYAB Cataract 16, multiple types
CRYBA1 Cataract, congenital zonular, with sutural opacities
CRYBA4 Cataract 23
CRYBB1 Cataract, congenital nuclear, autosomal recessive 3
CRYBB2 Cataract 3, multiple types
CRYBB3 Cataract, congenital nuclear, autosomal recessive 2
CRYGB Cataract 39, multiple types
CRYGC Cataract, coppock-like
CRYGD Cataract 4
CRYGS Cataract 20, multiple types
CTDP1 Congenital Cataracts, facial dysmorphism, and neuropathy
CTNNA1 Macular dystrophy, patterned, 2
CTSD Ceroid lipofuscinosis neuronal 10
CYP1B1 Anterior segment dysgenesis 6;
Glaucoma 3, primary infantile, b
CYP4V2 Bietti crystalline corneoretinal dystrophy
DCN Congenital stromal corneal dystrophy
DHDDS Retinitis pigmentosa 59
DSPP Deafness, autosomal dominant 39, with dentinogenesis
EFEMP1 Doyne honeycomb retinal dystrophy
ELOVL4 Stargardt disease 3
EPHA2 Cataract 6, multiple types
EYS Retinitis pigmentosa 25
FAM161A Retinitis pigmentosa 28
FLVCR1 Posterior column ataxia with retinitis pigmentosa
FRAS1 Cryptophthalmos syndrome
FREM1 Marles Greenberg Persaud syndrome
FREM2 Cryptophthalmos syndrome
FSCN2 Retinitis pigmentosa 30
FTL Hyperferritinemia cataract syndrome
FYCO1 Cataract, autosomal recessive congenital 2
FZD4 Exudative vitreoretinopathy 1
GALK1 Deficiency of galactokinase
GALT Deficiency of UDPglucose-hexose-1-phosphate
uridylyltransferase
GDF3 Klippel-Feil syndrome 3, autosomal dominant;
Microphthalmia, isolated 7; Microphthalmia, isolated, with coloboma 6
GDF6 Microphthalmia, isolated, with coloboma 6;
Leber congenital amaurosis 17; Microphthalmia, isolated 4
GFER Myopathy, mitochondrial progressive,
with congenital cataract, hearing loss, and developmental delay
GIPC3 Deafness, autosomal recessive 15
GJA1 Oculodentodigital dysplasia, autosomal recessive
GJA3 Zonular pulverulent cataract 3
GNAT1 Congenital stationary night blindness, autosomal dominant 3;
Night blindness, congenital stationary, type 1g
GNAT2 Achromatopsia 4
GNPTG Mucolipidosis III gamma
GPR143 Ocular albinism, type I;
Nystagmus 6, congenital, X-linked
GPR179 Congenital stationary night blindness, type 1E
GRIP1 Cryptophthalmos syndrome
GRK1 Oguchi disease 2
GRM6 Congenital stationary night blindness, type 1B
GRN Ceroid lipofuscinosis, neuronal, 11
GSN Meretoja syndrome
GUCA1A Cone dystrophy 3
GUCA1B Retinitis pigmentosa 48
GUCY2D Leber congenital amaurosis 1; Cone-rod dystrophy 6
HARS Usher syndrome, type 3B
HCCS Linear skin defects with multiple congenital anomalies 1
HMX1 Oculoauricular syndrome
HSF4 Cataract, zonular
IDH3B Retinitis pigmentosa 46
IFT140 Renal dysplasia, retinal pigmentary dystrophy,
cerebellar ataxia and skeletal dysplasia
IMPDH1 Retinitis pigmentosa 10; Leber congenital amaurosis 11
IMPG1 Macular dystrophy, vitelliform, 4
IMPG2 Retinitis pigmentosa 56; Macular dystrophy,
atypical vitelliform
INVS Infantile nephronophthisis
ITM2B Retinal dystrophy with inner
retinal dysfunction and ganglion cell abnormalities
IQCB1 Senior-Loken syndrome 5
JAG1 Alagille syndrome 1
JAM3 Hemorrhagic destruction of the brain,
subependymal calcification, and cataracts
KARS1 Deafness, autosomal recessive 89
KCNJ13 Leber congenital amaurosis 16; Snowflake vitreoretinal degeneration
KIF11 Microcephaly with or without chorioretinopathy,
lymphedema, or mental retardation
KIF7 Acrocallosal syndrome, Schinzel type
KIF21A Fibrosis of extraocular muscles, congenital, 1
KLHL7 Retinitis pigmentosa 42
KRT12 Meesman’s corneal dystrophy
KRT3 Meesman’s corneal dystrophy
LAMA1 Poretti-boltshauser syndrome
LCA5 Leber congenital amaurosis 5
LHFPL5 Deafness, autosomal recessive 67
LIM2 Cataract 19, multiple types
LOXHD1 Deafness, autosomal recessive 77
LRAT Leber congenital amaurosis 14
LRP5 Exudative vitreoretinopathy 4
LZTFL1 Bardet-Biedl syndrome 17
MAK Retinitis pigmentosa 62
MERTK Retinitis pigmentosa 38
MFN2 Hereditary motor and sensory neuropathy with optic atrophy
MFRP Microphthalmia, isolated 5; Nanophthalmos 2
MFSD8 Macular dystrophy with central cone involvement
MIP Cataract 15, multiple types
MKKS Bardet-Biedl syndrome 6
MKS1 Bardet-Biedl syndrome 13
MTTP Abetalipoproteinaemia
MVK Mevalonic aciduria
MYO7A Usher syndrome, type 1
MYOC Primary open angle glaucoma juvenile onset 1
NAA10 Lenz microphthalmia syndrome
NDP Familial exudative vitreoretinopathy, X-linked;
Atrophia bulborum hereditaria
NHS Nance-Horan syndrome; Cataract 40
NMNAT1 Leber congenital amaurosis 9
NPHP1 Joubert syndrome 4; Senior-Loken syndrome 1
NPHP3 Adolescent nephronophthisis; Meckel syndrome 7
NPHP4 Senior-Loken syndrome 4
NR2E3 Retinitis pigmentosa 37; Enhanced s-cone syndrome
NRL Retinitis pigmentosa 27
NYX Congenital stationary night blindness, type 1A
OAT Ornithine aminotransferase deficiency
OFD1 Retinitis pigmentosa 23; Joubert syndrome 10
OPA1 Dominant hereditary optic atrophy;
Autosomal dominant optic atrophy plus syndrome;
Glaucoma, normal tension, susceptibility to
OPA3 Optic atrophy and cataract, autosomal dominant
OPN1MW Colorblindness, partial, deutan series;
Cone monochromatism
OTX2 Microphthalmia syndromic 5
PANK2 Hypoprebetalipoproteinemia, acanthocytosis,
retinitis pigmentosa, and pallidal degeneration
PAX2 Renal coloboma syndrome
PAX6 Aniridia 1; Irido-corneo-trabecular dysgenesis;
Optic nerve hypoplasia, bilateral; Coloboma of optic disc
PCDH15 Usher syndrome, type 1F;
Usher syndrome type ID/F, CDH23/PCDH15, digenic
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDE6A Retinitis pigmentosa 43
PDE6B Retinitis pigmentosa 40;
Congenital stationary night blindness, autosomal dominant 2
PDE6C Cone dystrophy 4
PDE6G Retinitis pigmentosa 57
PDE6H Retinal cone dystrophy 3A
PDZD7 Usher syndrome, type 2A;
Usher syndrome type 2c, GPR98/PDZD digenic
PEX7 Peroxisome biogenesis disorder 9B
PHOX2A Fibrosis of extraocular muscles, congenital, 2
PHYH Phytanic acid storage disease
PIKFYVE Fleck corneal dystrophy
PITPNM3 Cone-rod dystrophy 5
PITX2 Iridogoniodysgenesis, dominant type;
Axenfeld-Rieger syndrome type 1; Ring dermoid of cornea
PITX3 Anterior segment mesenchymal dysgenesis;
Cataract, posterior polar, 4
PLA2G5 Fleck retina, familial benign
POC1B Cone-rod dystrophy 20
PPT1 Ceroid lipofuscinosis neuronal 1
PRCD Retinitis pigmentosa 36
PRDM5 Brittle cornea syndrome 2
PROM1 Cone-rod dystrophy 12; Retinitis pigmentosa 41;
Stargardt disease 4; Bull’s eye macular dystrophy
PRPF3 Retinitis pigmentosa 18
PRPF31 Retinitis pigmentosa 11
PRPF6 Retinitis pigmentosa 60
PRPF8 Retinitis pigmentosa 13
PRPH2 Choroidal dystrophy, central areolar 2;
Retinitis pigmentosa 7; Patterned dystrophy of retinal pigment epithelium;
Macular dystrophy, vitelliform, adult-onset; Pigmentary retinal dystrophy
PRSS56 Microphthalmia, isolated 6
RAB28 Cone-rod dystrophy 18
RAX2 Cone-rod dystrophy 11;
Age-related macular degeneration 6
RBP3 Retinitis pigmentosa 66
RBP4 Microphthalmia, isolated, with coloboma 10;
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
RD3 Leber congenital amaurosis 12
RDH12 Leber congenital amaurosis 13
RDH5 Pigmentary retinal dystrophy
RGR Retinitis pigmentosa 44
RGS9 Prolonged electroretinal response suppression
RGS9BP Prolonged electroretinal response suppression
RHO Pigmentary retinal dystrophy;
Congenital stationary night blindness, autosomal dominant 1;
Retinitis pigmentosa 4
RIMS1 Cone-rod dystrophy 7
RLBP1 Pigmentary retinal dystrophy; Bothnia retinal dystrophy;
Newfoundland rod-cone dystrophy
ROM1 Retinitis pigmentosa 7
RP1 Retinitis pigmentosa 1
RP1L1 Occult macular dystrophy
RP2 Retinitis pigmentosa 2
RP9 Retinitis pigmentosa 9
RPE65 Leber congenital amaurosis 2;
Retinitis pigmentosa 20
RPGR Cone-rod dystrophy, X-linked 1;
Macular degeneration, X-linked atrophic;
Retinitis pigmentosa, X-linked, and sinorespiratory infections,
with or without deafness;
Retinitis pigmentosa 15
RPGRIP1 Cone-rod dystrophy 13; Leber congenital amaurosis 6
RPGRIP1L COACH syndrome; Joubert syndrome 7;
Meckel syndrome type 5
RS1 Juvenile retinoschisis
SAG Oguchi’s disease; Retinitis pigmentosa 47
SDCCAG8 Bardet-Biedl syndrome 16; Senior-Loken syndrome 7
SEMA4A Cone-rod dystrophy 2; Retinitis pigmentosa 35
SIX6 Microphthalmia syndromic 3
SLC24A1 Congenital stationary night blindness, type 1D
SLC45A2 Oculocutaneous albinism type 4
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4;
Corneal dystrophy and perceptive deafness; Corneal endothelial dystrophy type 2
SNRNP200 Retinitis pigmentosa 33
SOX2 Microphthalmia syndromic 3
SPATA7 Leber congenital amaurosis 3
STRA6 Microphthalmia syndromic 9
TACSTD2 Lattice corneal dystrophy type III
TCTN1 Joubert syndrome 13
TCTN2 Joubert syndrome 24; Meckel syndrome type 8
TDRD7 Cataract, autosomal recessive congenital 4
TEAD1 Sveinsson chorioretinal atrophy
TGFBI Avellino corneal dystrophy;
Corneal epithelial dystrophy;
Groenouw corneal dystrophy type I; Lattice corneal dystrophy type I;
Lattice corneal dystrophy type 3A; Reis-Bucklers’ corneal dystrophy;
Thiel-Behnke corneal dystrophy
TIMM8A Mohr-Tranebjaerg syndrome
TIMP3 Sorsby fundus dystrophy
TMEM126A Optic atrophy 7
TMEM138 Joubert syndrome 16
TMEM216 Joubert syndrome 2; Meckel syndrome type 2
TMEM237 Joubert syndrome 14
TMEM67 COACH syndrome; Joubert syndrome 6;
Meckel syndrome type 3
TNC Deafness, autosomal dominant 56
TOPORS Retinitis pigmentosa 31
TPP1 Ceroid lipofuscinosis neuronal 2
TREX1 Vasculopathy, retinal, with cerebral leukodystrophy
TRIM32 Bardet-Biedl syndrome 11
TRPM1 Congenital stationary night blindness, type 1C
TSPAN12 Exudative vitreoretinopathy 5
TTC21B Nephronophthisis 12
TTC8 Retinitis pigmentosa 51; Bardet-Biedl syndrome 8
TUBB3 Fibrosis of extraocular muscles, congenital, 3A
TUBB2B Cortical dysplasia, complex, with other brain malformations 7
TTLL5 Cone-rod dystrophy 19
TULP1 Retinitis pigmentosa 14; Leber congenital amaurosis 15
TYR Tyrosinase-negative oculocutaneous albinism;
Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness
TYRP1 Oculocutaneous albinism type 3
UBIAD1 Schnyder crystalline corneal dystrophy
UNC119 Cone-rod dystrophy
USH1C Usher syndrome, type 1C
USH1G Usher syndrome, type 1G
USH2A Usher syndrome, type 2A; Retinitis pigmentosa 39
VAX1 Microphthalmia, syndromic 11
VCAN Wagner syndrome
VIM Cataract 30
VPS13B Cohen syndrome
VSX1 Craniofacial anomalies and anterior
segment dysgenesis syndrome; Keratoconus 1
VSX2 Microphthalmia, isolated 2;
Microphthalmia, isolated, with coloboma 3
WDPCP Bardet-Biedl syndrome 15
WDR19 Senior-Loken syndrome 8
WFS1 Cataract 41
WHRN Usher syndrome, type 2D
YAP1 Coloboma, ocular, with or without hearing impairment,
cleft lip/palate, and/or mental retardation
ZEB1 Corneal dystrophy, Fuchs endothelial, 6;
Posterior polymorphous corneal dystrophy 3
ZNF469 Corneal fragility keratoglobus, blue sclerae and joint hypermobility
ZNF513 Retinitis pigmentosa 58
ZNF644 Myopia 21, autosomal dominant

Urea Cycle Disorder NGS panel

Published 31/10/2017

Urea Cycle Disorder
NGS panel

Genes
(full coding
region):		 ARG1, ASL, ASS1, CPS1, NAGS, OAT, OTC, SLC7A7, SLC25A13, SLC25A15

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the OTC gene

Genes: OTC
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Porphyria NGS panel

Published 31/10/2017

Porphyria
NGS panel

Genes
(full coding
region):		 ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ALAD, CPOX, FECH, HMBS, PPOX, UROD, UROS
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Methylmalonic Aciduria and Homocystinuria NGS panel

Published 31/10/2017

Methylmalonic Aciduria and Homocystinuria
NGS panel

Genes
(full coding
region):		 ABCD4, ACSF3, AMN, CBLIF, CBS, CD320, CUBN, IVD, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, SUCLA2, SUCLG1, TCN1, TCN2

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: MLC1, MLYCD, D2HGDH, L2HGDH
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Lysosomal Storage Disease NGS panel

Published 31/10/2017

Lysosomal Storage Disease
NGS panel

Genes
(full coding
region):		 AGA, ARSA, ARSB, ASAH1, CLN3, CLN5. CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: GLA, HEXA, IDS, NPC1, NPC2, SMPD1
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Fatty Acid Oxidation Disorder NGS panel

Published 31/10/2017

Fatty Acid Oxidation Disorder
NGS panel

Genes
(full
coding
region):		 ACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, PPARG, SLC22A5, SLC25A20, TAZ

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ACADVL, SLC22A5
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Dilated Cardiomyopathy NGS panel

Published 13/10/2017

Dilated Cardiomyopathy
NGS panel

Genes
(full
coding region):		 ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CRYAB, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FLNC, GATAD1, JPH2, JUP, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYPN, NEBL, NEXN, NKX2-5, OBSCN, PRDM16, PKP2, PLN, PSEN2, RAF1, RBM20, SCN5A, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: BAG3, TNNT2
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Differential diagnosis
3. Testing for at-risk family members
4. Genetic counseling

Dilated cardiomyopathy (DCM) is a progressive disease of heart muscle that is characterized by left ventricular enlargement and systolic dysfunction. Persons with DCM may be asymptomatic for a number of years. Complications usually occur later in the disease course and may include heart failure, arrhythmias, thromboembolic disease.

The disease initially manifests in adults in the fourth to sixth decade, it may also present at any age.

DCM can be categorized as acquired, syndromic, or nonsyndromic. DCM can be inherited in an autosomal dominant or X-linked manner. Most cases are inherited in an autosomal dominant manner.

References:
Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. GeneReviews® Initial Posting: July 27, 2007; Last Update: August 23, 2018.
Judge, D. P. 2009. Use of Genetics in the Clinical Evaluation of Cardiomyopathy. JAMA, 302(22), 2471.doi:10.1001/jama.2009.1787 

Melanoma NGS panel

Published 30/08/2017

Melanoma
NGS panel

Genes
(full coding
region):		 BAP1, BRCA2, CDK4, CDKN2A, MC1R, MITF, POT1, PTEN, RB1, TERT, XRCC3

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Del/dup analysis

Genes: CDK4, CDKN2A, CDKN2B, MITF
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Thrombocytopenia NGS panel

Published 29/06/2017

Thrombocytopenia NGS panel

Genes
(full coding
region):		 ADAMTS13, ANKRD26, CYCS, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MPL, MYH9, RUNX1, WAS

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel

Published 19/06/2017

Arrhythmogenic Right Ventricular Dysplasia/
Cardiomyopathy
NGS panel

Genes
(full
coding region):		 CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Testing patients with arrhythmia with nonspecific cardiomyopathy
  3. Risk assessment in relatives
  4. Prenatal diagnosis for known familial mutation
  5. Genetic counseling

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. ARVC affects the right ventricle and in some cases also the left ventricle. The most common presenting symptoms are heart palpitations, syncope, and sudden death.

The presentation of disease is highly variable, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years.

ARVC is typically inherited in an autosomal dominant manner.

References:

Fontaine G et al. Arrhythmogenic right ventricular cardiomyopathies: clinical forms and main differential diagnoses. Circulation. 1998;97:1532–5. 
McNally E et al. Arrhythmogenic Right Ventricular Cardiomyopathy. GeneReviews Initial Posting: April 18, 2005; Last Update: May 25, 2017.