List of diseases covered by Familial Hemiplegic Migraine NGS panel

Published 13/03/2020

List of diseases covered by
Familial Hemiplegic Migraine NGS panel

Gene Condition
ATP1A2 Migraine, familial hemiplegic, 2;
Alternating hemiplegia of childhood 1
ATP1A3 Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12
CACNA1A Migraine, familial hemiplegic, 1;
Epileptic encephalopathy, early infantile, 42; Episodic ataxia, type 2;
Spinocerebellar ataxia 6
CSNK1D Advanced sleep-phase syndrome, familial, 2
KCNK18 Migraine, with or without aura, susceptibility to, 13
NOTCH3 Cerebral arteriopathy with subcortical infarcts
and leukoencephalopathy 1; Lateral meningocele syndrome;
Myofibromatosis, infantile 2
PNKD Paroxysmal nonkinesigenic dyskinesia 1
POLG Mitochondrial DNA depletion syndrome 4A (Alpers type);
Mitochondrial DNA depletion syndrome 4B (MNGIE type);
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE);
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1
PRRT2 Convulsions, familial infantile, with paroxysmal choreoathetosis;
Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2
SCN1A Migraine, familial hemiplegic, 3;
Epilepsy, generalized, with febrile seizures plus, type 2;
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
SLC1A3 Episodic ataxia, type 6
SLC2A1 Epilepsy, idiopathic generalized, susceptibility to, 12; Dystonia 9;
GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities

Familial Hemiplegic Migraine NGS panel

Published 13/03/2020

Familial Hemiplegic Migraine NGS panel

Genes
(full coding
region):		 ALPK1, ATP1A2, ATP1A3, CACNA1A, CSNK1D, KCNK6, KCNK18, NOTCH3, PNKD, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1, SLC4A4

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 Female Infertility NGS panel

Published 11/03/2020

List of diseases covered by
Female Infertility NGS panel

Gene Condition
ANOS1 Hypogonadotropic hypogonadism 1 with or without anosmia
(Kallmann syndrome 1)
AR Aplasia of the uterus
BMP15 Premature ovarian failure 4
BMP4 Microphthalmia, syndromic 6; Orofacial cleft 11
CASR Hyperparathyroidism, neonatal;
Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I
CFTR Cystic fibrosis
CLPP Perrault syndrome 3
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
DUSP6 Hypogonadotropic hypogonadism 19 with or without anosmia
EIF2B1 Leukoencephalopathy with vanishing white matter
EIF2B2 Ovarioleukodystrophy
EIF2B4 Ovarioleukodystrophy
EIF2B5 Ovarioleukodystrophy
ERCC6 Premature ovarian failure 11
ESR1 Estrogen resistance
ESR2 Ovarian dysgenesis 8
F2 Thrombophilia due to thrombin defect;
Pregnancy loss, recurrent, susceptibility to, 2
F5 Thrombophilia due to activated protein C resistance;
Factor V deficiency; Pregnancy loss, recurrent, susceptibility to, 1
FEZF1 Hypogonadotropic hypogonadism 22, with or without anosmia
FGF17 Hypogonadotropic hypogonadism 20 with or without anosmia
FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia
FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia
FIGLA Premature ovarian failure 6
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia
FMR1 Premature ovarian failure 1
FOXE1 Bamforth-Lazarus syndrome
FOXL2 Premature ovarian failure 3
FSHB Hypogonadotropic hypogonadism 24 without anosmia
FSHR Ovarian dysgenesis 1;
Ovarian hyperstimulation syndrome;
Ovarian response to FSH stimulation
GCM2 Hyperparathyroidism 4; Hypoparathyroidism, familial isolated
GDF9 Premature ovarian failure 14
GHR Growth hormone insensitivity, partial; Laron dwarfism
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GNAS McCune-Albright syndrome;
ACTH-independent macronodular adrenal hyperplasia;
Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib;
Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism;
Osseous heteroplasia, progressive
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GNRHR Hypogonadotropic hypogonadism 7 without anosmia
HARS2 Perrault syndrome 2
HESX1 Growth hormone deficiency with pituitary anomalies
HFM1 Premature ovarian failure 9
HSD17B4 Perrault syndrome 1
HS6ST1 Hypogonadotropic hypogonadism 15 with or without anosmia
IGSF1 Hypothyroidism, central, and testicular enlargement
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia
IRS4 Hypothyroidism, congenital, nongoitrous, 9
IYD Thyroid dyshormonogenesis 4
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia;
Precocious puberty, central, 1
LARS2 Perrault syndrome 4
LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism
LHB Isolated lutropin deficiency
LHX3 Pituitary hormone deficiency, combined, 3
LHX4 Pituitary hormone deficiency, combined, 4
MCM8 Premature ovarian failure 10
MCM9 Ovarian dysgenesis 4
MSH5 Premature ovarian failure 13
MRPS22 Ovarian dysgenesis 7
MTHFR Homocystinuria due to MTHFR deficiency
NKX2-1 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
NKX2-5 Hypothyroidism, congenital nongoitrous, 5
NOBOX Premature ovarian failure 5
NR0B1 Adrenal hypoplasia, congenital; 46XY sex reversal 2, dosage-sensitive
NR5A1 Premature ovarian failure 7; 46, XX sex reversal 4; 46XY sex reversal 3
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia
NUP107 Ovarian dysgenesis 6; Nephrotic syndrome, type 11;
Galloway-Mowat syndrome 7
OTX2 Pituitary hormone deficiency, combined, 6;
Retinal dystrophy, early-onset, with or without pituitary dysfunction
PADI6 Preimplantation embryonic lethality 2
PATL2 Oocyte maturation defect 4
PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
PDE3A Hypertension and brachydactyly syndrome
POLR3B Leukodystrophy, hypomyelinating, 8,
with or without oligodontia and/or hypogonadotropic hypogonadism
POU1F1 Pituitary hormone deficiency, combined, 1
PROC Thrombophilia due to protein C deficiency, autosomal dominant;
Thrombophilia due to protein C deficiency, autosomal recessive
PROK2 Hypogonadotropic hypogonadism 4 with or without anosmia
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
PROP1 Pituitary hormone deficiency, combined, 2
PROS1 Thrombophilia due to protein S deficiency, autosomal dominant;
Thrombophilia due to protein S deficiency, autosomal recessive
PSMC3IP Ovarian dysgenesis 3
SECISBP2 Thyroid hormone metabolism, abnormal
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SERPINC1 Thrombophilia due to antithrombin III deficiency
SERPINE1 Plasminogen activator inhibitor-1 deficiency
SLC26A4 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct;
Pendred syndrome
SLC5A5 Thyroid dyshormonogenesis 1
SOHLH1 Ovarian dysgenesis 5
SOX10 PCWH syndrome; Waardenburg syndrome, type 2E,
with or without neurologic involvement; Waardenburg syndrome, type 4C
SOX2 Microphthalmia, syndromic 3
SOX3 Mental retardation, X-linked,
with isolated growth hormone deficiency; Panhypopituitarism, X-linked
SPRY4 Hypogonadotropic hypogonadism 17 with or without anosmia
SRA1 Hypogonadism with anosmia
STAG3 Premature ovarian failure 8
SYCE1 Premature ovarian failure 12
SYCP3 Pregnancy loss, recurrent, 4
TAC3 Hypogonadotropic hypogonadism 10 with or without anosmia
TACR3 Hypogonadotropic hypogonadism 11 with or without anosmia
TBL1X Hypothyroidism, congenital, nongoitrous, 8
TG Thyroid dyshormonogenesis 3
THBD Thrombophilia due to thrombomodulin defect
THRA Hypothyroidism, congenital, nongoitrous, 6
THRB Thyroid hormone resistance;
Thyroid hormone resistance, autosomal recessive;
Thyroid hormone resistance, selective pituitary
TPO Thyroid dyshormonogenesis 2A
TRH Thyrotropin-releasing hormone deficiency
TRHR Hypothyroidism, congenital, nongoitrous, 7
TSHB Hypothyroidism, congenital, nongoitrous 4
TSHR Hyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1
TUBB8 Oocyte maturation defect 2
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia
WEE2 Oocyte maturation defect 5
WNT4 Mullerian aplasia and hyperandrogenism; SERKAL syndrome
WT1 Frasier syndrome; Denys-Drash syndrome; Meacham syndrome
ZP1 Oocyte maturation defect 1
ZP2 Oocyte maturation defect 6
ZP3 Oocyte maturation defect 3

Female Infertility NGS panel

Published 11/03/2020

Female Infertility NGS panel

Genes: ANOS1, AR, AXL, BMP15, BMP4, CASR, CCDC141, CFTR, CLPP, CPEB1, DUOX1, DUOX2, DUOXA2, DUSP6, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ERCC6, ESR1, ESR2, F2, F5, FEZF1, FGF17, FGF8, FGFR1, FIGLA, FLRT3, FMR1 (incl CGG trinucleotide repeat expansion), FOXE1, FOXL2, FSHB, FSHR, GCM2, GDF9, GHR, GLIS3, GNAS, GNRH1, GNRHR, HARS2, HESX1, HFM1, HSD17B4, HS6ST1, IGSF1, IL17RD, INHA, IRS4, IYD, KISS1, KISS1R, LARS2, LHCGR, LHB, LHX3, LHX4, LHX8, MCM8, MCM9, MRPS22, MSH5, MTHFR, NANOS3, NKX2-1, NKX2-5, NLRP2, NLRP5, NOBOX, NR0B1, NR5A1, NSMF, NUP107, OTX2, PADI6, PATL2, PAX8, PDE3A, PLCZ1, POLR3B, POU1F1, PROC, PROK2, PROKR2, PROP1, PROS1, PSMC3IP, SECISBP2, SEMA3A, SERPINC1, SERPINE1, SLC26A4, SLC5A5, SMC1B, SOHLH1, SOX10, SOX2, SOX3, SPIDR, SPRY4, SRA1, STAG3, SYCE1, SYCE3, SYCP3, TAC3, TACR3, TBL1X, TG, THBD, THRA, THRB, TPO, TRH, TRHR, TSHB, TSHR, TTF1, TUBB8, WDR11, WEE2, WNT4, WT1, ZP1, ZP2, ZP3

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

Indications for genetic testing:

  1. Suspected infertility in women who had already undergone basic clinical analysis and karyotype analysis
  2. Primary ovarian dysfunction or recurrent fetal loss
  3. Testing of infertile couples who will be undergoing treatment with assisted reproductive technology (ART), especially a genetic anomaly is found in either one component of the couple
  4. Evaluation of the risk of disease to be transmitted to the child to be born through ART

Female factors account for at least 35% of all infertility cases and comprise a wide range of causes affecting ovarian development, maturation of oocytes, and fertilization competence as well as the potential of a fertilized egg for preimplantation development, implantation, and fetal growth.

Other factors influencing female infertility include diseases such as polycystic ovarian syndrome (PCOS) and endometriosis, and the cumulative effects of environmental factors and lifestyle. PCOS, the most common cause of infertility is a complex, hormonal and metabolic disorder affecting 5–20% of women of reproductive age. The disease is characterised by hyperandrogenism, ovulatory dysfunction, polycystic ovarian morphology and gonadotropic abnormalities. Endometriosis affects 7–10% of women and is associated with infertility.

Genetic abnormalities leading to infertility in females encompass large chromosome abnormalities, submicroscopic chromosome deletion and duplications, and DNA sequence variations in the genes involved in oogenesis, maintenance of ovarian reserve, hormonal signaling, and anatomical and functional development of female reproductive organs. Genetic abnormalities are implicated in about 10% of female infertility cases.

References:

Dallel, M. et al 2018. Differential association of DENND1A genetic variants with polycystic ovary syndrome in Tunisian but not Bahraini Arab women. Gene 647, 79–84
Day, FR et al 2015. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat. Commun. 6, 8464.
Foresta, C 2002. Guidelines for the appropriate use of genetic tests in infertile couples. European Journal of Human Genetics, 10(5), 303–312.
Gajbhiye, R et al 2018. Complex genetics of female fertility. Npj Genomic Medicine, 3(1).
Giudice, LC and Kao, LC 2004. Endometriosis. Lancet 364, 1789–1799. 
Azziz, R 2016. PCOS in 2015: New insights into the genetics of polycystic ovary syndrome. Nat. Rev. Endocrinol. 12, 183.
Lambalk, CB et al 2017. GnRH antagonist versus long agonist protocols in IVF: a systematic review and meta-analysis accounting for patient type. Hum Reprod.
Lawler, AM and Gearhart, JD 1998. Genetic counselling for patients who will be undergoing treatmnent with assisted reproductive technology. Fertil Steril 70: 412 ± 413.
Norman, RJ et al 2007. Polycystic ovary syndrome. Lancet 370, 685–697.
Venkatesh, T et al 2014. New insights into the genetic basis of infertility. Appl Clin Genet. 2014; 7: 235–243.
Yatsenko, SA and Rajkovic, A 2019. Genetics of human female infertility. Biol Reprod. 2019 Sep 1;101(3):549-566.

 

List of diseases covered by Paroxysmal Dyskinesia NGS panel

Published 06/01/2020

List of diseases covered by 
Paroxysmal Dyskinesia NGS panel

Gene Condition
ADCY5 Dyskinesia, familial, with facial myokymia
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3,
with or without generalized epilepsy;
Cerebellar atrophy, developmental delay, and seizures;
Epilepsy, idiopathic generalized, susceptibility to, 16
PNKD Paroxysmal nonkinesigenic dyskinesia 1
PRRT2 Episodic kinesigenic dyskinesia 1;
Convulsions, familial infantile, with paroxysmal choreoathetosis;
Seizures, benign familial infantile, 2
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

Paroxysmal Dyskinesia NGS panel

Published 06/01/2020

Paroxysmal Dyskinesia NGS panel

Genes
(full
coding region):		 ADCY5, KCNMA1, PNKD, PRRT2, SLC2A1

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

Malignant hyperthermia NGS panel

Published 06/01/2020

Malignant Hyperthermia NGS panel

Genes
(full coding
region):		 CACNA1S, RYR1, STAC3
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

Indications for genetic testing:

  1. Clinical episode of malignant hyperthermia (MH)
  2. Positive caffeine/halothane contracture test
  3. Relative with a positive contracture test or a known MH-causing variant
  4. Unexplained death with signs of MH during or immediately after anesthesia
  5. Exercise-related rhabdomyolysis and/or heat stroke

Malignant hyperthermia is an inherited pharmacogenetic disorder of calcium regulation resulting in uncontrolled skeletal muscle hypermetabolism.

Manifestations of MH are triggered by certain volatile anesthetics (i.e. halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with succinylcholine, a depolarizing muscle relaxant. The triggering substances initiate uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate.

MH clinical manifestations are hyperthermia, hypercapnia, tachycardia, acidosis, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure.

In nearly all cases, the first manifestations of MH occur in the operating room, MH may also occur in the early postoperative period. Recent studies show that some individuals with MH will also develop the disorder with exercise and/or on exposure to hot environments. Without prompt treatment with dantrolene sodium, mortality is extremely high.

MH is an autosomal dominant disorder.

References:

Riazi S, Kraeva N, Hopkins PM. Updated guide for the management of malignant hyperthermia. Can J Anaesth. 2018;65:709–21.
Rosenberg H et al. Malignant Hyperthermia Susceptibility. GeneReviews® Initial Posting: December 19, 2003; Last Update: January 16, 2020.
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Malignant hyperthermia: A review. Orphanet J Rare Dis. 2015;10:93.

List of diseases covered by Male Factor Infertility NGS panel

Published 21/11/2019

List of diseases covered by
Male Factor Infertility NGS panel

Gene Condition
AK7 Spermatogenic failure 27
ADGRG2 Congenital bilateral absence of vas deferens, X-linked
AMH Persistent Mullerian duct syndrome, type I
AMHR2 Persistent Mullerian duct syndrome, type II
ANOS1 Hypogonadotropic hypogonadism 1 with or without anosmia
(Kallmann syndrome 1)
AR Androgen insensitivity;
Androgen insensitivity, partial, with or without breast cancer;
Hypospadias 1, X-linked; Spinal and bulbar muscular atrophy of Kennedy;
Prostate cancer, susceptibility to
ARMC2 Spermatogenic failure 38
AURKC Spermatogenic failure 5
BMP4 Microphthalmia, syndromic 6; Orofacial cleft 11
BNC2 Lower urinary tract obstruction, congenital
BRDT Spermatogenic failure 21
CASR Hyperparathyroidism, neonatal;
Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I
CATSPER1 Spermatogenic failure 7
CCDC39 Ciliary dyskinesia, primary, 14
CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency
CYP11B1 Adrenal hyperplasia, congenital,
due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable
CFAP43 Spermatogenic failure 19
CFAP44 Spermatogenic failure 20
CFAP69 Spermatogenic failure 24
CFTR Congenital bilateral absence of vas deferens; Cystic fibrosis
DNAH1 Spermatogenic failure 18
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAH6 Abnormal spermatogenesis
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus
DPY19L2 Spermatogenic failure 9
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
FANCM Spermatogenic failure 28
FEZF1 Hypogonadotropic hypogonadism 22, with or without anosmia
FGF17 Hypogonadotropic hypogonadism 20 with or without anosmia
FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia
FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia
FOXE1 Bamforth-Lazarus syndrome
FSHB Hypogonadotropic hypogonadism 24 without anosmia
FSIP2 Spermatogenic failure 34
GCM2 Hyperparathyroidism 4; Hypoparathyroidism, familial isolated
GHR Growth hormone insensitivity, partial; Laron dwarfism
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GNAS McCune-Albright syndrome;
ACTH-independent macronodular adrenal hyperplasia;
Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib;
Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism;
Osseous heteroplasia, progressive
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GNRHR Hypogonadotropic hypogonadism 7 without anosmia
HESX1 Growth hormone deficiency with pituitary anomalies
HSD3B2 Adrenal hyperplasia, congenital,
due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
HS6ST1 Hypogonadotropic hypogonadism 15 with or without anosmia
IGSF1 Hypothyroidism, central, and testicular enlargement
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia
INSL3 Cryptorchidism
IRS4 Hypothyroidism, congenital, nongoitrous, 9
IYD Thyroid dyshormonogenesis 4
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia;
Precocious puberty, central, 1
KLHL10 Spermatogenic failure 11
LHB Isolated lutropin deficiency
LHX3 Pituitary hormone deficiency, combined, 3
LHX4 Pituitary hormone deficiency, combined, 4
MAMLD1 Hypospadias 2, X-linked
M1AP Spermatogenesis maturation arrest; Non-obstructive azoospermia
MEI1 Hydatidiform mole, recurrent, 3
LRRC6 Ciliary dyskinesia, primary, 19
MEI1 Hydatidiform mole, recurrent, 3
MEIOB Spermatogenic failure 22
NANOS1 Spermatogenic failure 12
NKX2-1 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
NKX2-5 Hypothyroidism, congenital nongoitrous, 5
NR5A1 Spermatogenic failure 8; Adrenocortical insufficiency;
46XY sex reversal 3; 46, XX sex reversal 4
NR0B1 Adrenal hypoplasia, congenital; 46XY sex reversal 2, dosage-sensitive
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia
OTX2 Pituitary hormone deficiency, combined, 6;
Retinal dystrophy, early-onset, with or without pituitary dysfunction
PANK2 HARP syndrome;
Neurodegeneration with brain iron accumulation 1
PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
PDE3A Hypertension and brachydactyly syndrome
PLCZ1 Spermatogenic failure 17
PMFBP1 Spermatogenic failure 31
POU1F1 Pituitary hormone deficiency, combined, 1
PPP2R3C Spermatogenic failure 36;
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
PROK2 Hypogonadotropic hypogonadism 4 with or without anosmia
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
PROP1 Pituitary hormone deficiency, combined, 2
QRICH2 Spermatogenic failure 35
RNF212 Recombination rate QTL 1
RSPO1 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin
and sex reversal
SECISBP2 Thyroid hormone metabolism, abnormal
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SEPTIN12 Spermatogenic failure 10
SLC26A4 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct;
Pendred syndrome
SLC26A8 Spermatogenic failure 3
SLC5A5 Thyroid dyshormonogenesis 1
SLC9A3 Diarrhea 8, secretory sodium, congenital
SOHLH1 Spermatogenic failure 32
SOX10 PCWH syndrome; Waardenburg syndrome, type 2E,
with or without neurologic involvement; Waardenburg syndrome, type 4C
SOX2 Microphthalmia, syndromic 3
SOX3 Mental retardation, X-linked,
with isolated growth hormone deficiency; Panhypopituitarism, X-linked
SOX9 Campomelic dysplasia with autosomal sex reversal
SPATA16 Spermatogenic failure 6
SPINK2 Spermatogenic failure 29
SRA1 Hypogonadism with anosmia
SRD5A2 Pseudovaginal perineoscrotal hypospadias
STAG3 Non-obstructive azoospermia; Spermatogenesis maturation arrest
SUN5 Spermatogenic failure 16
SYCE1 Spermatogenic failure 15
SYCP3 Spermatogenic failure 4
TAC3 Hypogonadotropic hypogonadism 10 with or without anosmia
TACR3 Hypogonadotropic hypogonadism 11 with or without anosmia
TAF4B Spermatogenic failure 13
TBL1X Hypothyroidism, congenital, nongoitrous, 8
TDRD9 Spermatogenic failure 30
TEX11 Spermatogenic failure, X-linked, 2
TEX14 Spermatogenic failure 23
TEX15 Spermatogenic failure 25
TG Thyroid dyshormonogenesis 3
THRA Hypothyroidism, congenital, nongoitrous, 6
THRB Thyroid hormone resistance;
Thyroid hormone resistance, autosomal recessive;
Thyroid hormone resistance, selective pituitary
TPO Thyroid dyshormonogenesis 2A
TRH Thyrotropin-releasing hormone deficiency
TRHR Hypothyroidism, congenital, nongoitrous, 7
TRIM37 Mulibrey nanism
TSGA10 Spermatogenic failure 26
TSHB Hypothyroidism, congenital, nongoitrous 4
TSHR Hyperthyroidism, familial gestational;
Hypothyroidism, congenital, nongoitrous, 1
TTC21A Spermatogenic failure 37
USP9Y Spermatogenic failure, Y-linked, 2
UTP14C Congenital disorder of glycosylation
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia
WDR66 Spermatogenic failure 33
XRCC2 Fanconi anemia, complementation group U
ZMYND15 Spermatogenic failure 14

List of diseases covered by Congenital Disorders of Glycolysation NGS panel

Published 17/10/2019

List of diseases covered by
Congenital Disorders of Glycolysation NGS panel

Gene Condition
ALG1 Congenital disorder of glycosylation, type Ik
ALG11 Congenital disorder of glycosylation, type Ip
ALG12 Congenital disorder of glycosylation, type Ig
ALG13 Congenital disorder of glycosylation, type Is
ALG2 Congenital disorder of glycosylation, type Ii;
Myasthenic syndrome, congenital, 14, with tubular aggregates
ALG3 Congenital disorder of glycosylation, type Id
ALG6 Congenital disorder of glycosylation, type Ic
ALG8 Congenital disorder of glycosylation, type Ih;
Polycystic liver disease 3 with or without kidney cysts
ALG9 Congenital disorder of glycosylation, type Il;
Gillessen-Kaesbach-Nishimura syndrome
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA;
Wrinkly skin syndrome
B4GALT1 Congenital disorder of glycosylation, type IId
B3GLCT Peters-plus syndrome
COG1 Congenital disorder of glycosylation, type IIg
COG2 Congenital disorder of glycosylation, type IIq
COG4 Congenital disorder of glycosylation, type IIj;
Saul-Wilson syndrome
COG5 Congenital disorder of glycosylation, type IIi
COG6 Congenital disorder of glycosylation, type IIl;
Shaheen syndrome
COG7 Congenital disorder of glycosylation, type IIe
COG8 Congenital disorder of glycosylation, type IIh
DDOST Congenital disorder of glycosylation, type Ir
DHDDS Congenital disorder of glycosylation, type 1bb;
Developmental delay and seizures with or without movement abnormalities
DOLK Congenital disorder of glycosylation, type Im
DPAGT1 Congenital disorder of glycosylation, type Ij;
Myasthenic syndrome, congenital, 13, with tubular aggregates
DPM1 Congenital disorder of glycosylation, type Ie
DPM2 Congenital disorder of glycosylation, type Iu
DPM3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
GMPPA Alacrima, achalasia, and mental retardation syndrome
GNE Nonaka myopathy; Sialuria
MAGT1 Congenital disorder of glycosylation, type Icc;
Immunodeficiency, X-linked, with magnesium defect,
Epstein-Barr virus infection and neoplasia
MAN1B1 Mental retardation, autosomal recessive 15
MGAT2 Congenital disorder of glycosylation, type IIa
MOGS Congenital disorder of glycosylation, type IIb
MPDU1 Congenital disorder of glycosylation, type If
MPI Congenital disorder of glycosylation, type Ib
NGLY1 Congenital disorder of deglycosylation
PGM1 Congenital disorder of glycosylation, type It
PGM3 Immunodeficiency 23
PMM2 Congenital disorder of glycosylation, type Ia
RFT1 Congenital disorder of glycosylation, type In
SEC23B Cowden syndrome 7; Dyserythropoietic anemia, congenital, type II
SLC35A1 Congenital disorder of glycosylation, type IIf
SLC35A2 Congenital disorder of glycosylation, type IIm
SLC35C1 Congenital disorder of glycosylation, type IIc
SRD5A3 Congenital disorder of glycosylation, type Iq; Kahrizi syndrome
SSR4 Congenital disorder of glycosylation, type Iy
STT3A Congenital disorder of glycosylation, type Iw
STT3B Congenital disorder of glycosylation, type Ix
TMEM165 Congenital disorder of glycosylation, type IIk
TUSC3 Mental retardation, autosomal recessive 7

Congenital Disorders of Glycolysation NGS panel

Published 17/10/2019

Congenital Disorders of Glycolysation NGS panel

Genes
(full coding
region):		 ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, B3GLCT, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, GNE, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PGM3, PMM2, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3

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 Kallmann Syndrome NGS panel

Published 14/10/2019

List of diseases covered by
Kallmann Syndrome NGS panel

Gene Condition
ANOS1 Hypogonadotropic hypogonadism 1 with or
without anosmia (Kallmann syndrome 1)
FEZF1 Hypogonadotropic hypogonadism 22, with or without anosmia
FGF17 Hypogonadotropic hypogonadism 20 with or without anosmia
FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia
FGFR1 Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis;
Hartsfield syndrome; Hypogonadotropic hypogonadism 2
with or without anosmia; Jackson-Weiss syndrome;
Osteoglophonic dysplasia; Trigonocephaly 1
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia
FSHB Hypogonadotropic hypogonadism 24 without anosmia
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GNRHR Hypogonadotropic hypogonadism 7 without anosmia
HESX1 Growth hormone deficiency with pituitary anomalies
HS6ST1 Hypogonadotropic hypogonadism 15 with or without anosmia
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia
POLR3B Leukodystrophy, hypomyelinating, 8,
with or without oligodontia and/or hypogonadotropic hypogonadism
PROK2 Hypogonadotropic hypogonadism 4 with or without anosmia
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SOX10 PCWH syndrome,
Waardenburg syndrome, type 2E, with or without neurologic involvement,
Waardenburg syndrome, type 4C
SPRY4 Hypogonadotropic hypogonadism 17 with or without anosmia
TAC3 Hypogonadotropic hypogonadism 10 with or without anosmia
TACR3 Hypogonadotropic hypogonadism 11 with or without anosmia
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia

Kallmann Syndrome NGS panel

Published 14/10/2019

Kallmann Syndrome NGS panel

Genes
(full
coding
region):		 ANOS1, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LHB, NSMF, POLR3B, PROK2, PROKR2, SEMA3A, SOX10, SPRY4, TAC3, TACR3, WDR11

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

Senior-Loken Syndrome NGS panel

Published 21/08/2019

Senior-Loken Syndrome NGS panel

Genes
(full coding
region):		 CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

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

Primary Ciliary Dyskinesia NGS panel

Published 21/08/2019

Primary Ciliary Dyskinesia NGS panel

Genes
(full coding
region):		 ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10

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 Polycystic Kidney Disease NGS panel

Published 15/08/2019

List of diseases covered by
Polycystic Kidney Disease NGS panel

Gene Condition
ALG8 Polycystic liver disease 3
with or without kidney cysts;
Congenital disorder of glycosylation, type Ih
ANKS6 Nephronophthisis 16
BICC1 Renal dysplasia, cystic, susceptibility to
COL4A1 Retinal arteries, tortuosity of;
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;
Brain small vessel disease with or without ocular anomalies;
Hemorrhage, intracerebral, susceptibility to
DNAJB11 Polycystic kidney disease 6 with or
without polycystic liver disease
DZIP1L Polycystic kidney disease 5
GANAB Polycystic kidney disease 3
HNF1B Renal cysts and diabetes syndrome;
Diabetes mellitus, noninsulin-dependent; Renal cell carcinoma
LRP5 Exudative vitreoretinopathy 4;
Hyperostosis, endosteal;
Osteopetrosis, autosomal dominant 1; Osteoporosis-pseudoglioma syndrome;
Polycystic liver disease 4 with or without kidney cysts;
van Buchem disease, type 2
MUC1 Medullary cystic kidney disease 1
NOTCH2 Alagille syndrome 2; Hajdu-Cheney syndrome
OFD1 Retinitis pigmentosa 23;
Joubert syndrome 10; Orofaciodigital syndrome I;
Simpson-Golabi-Behmel syndrome, type 2
PKD1 Polycystic kidney disease 1
PKD2 Polycystic kidney disease 2
PKHD1 Polycystic kidney disease 4,
with or without hepatic disease
PRKCSH Polycystic liver disease 1
SEC63 Polycystic liver disease 2
SEC61A1 Hyperuricemic nephropathy,
familial juvenile, 4
TSC1 Lymphangioleiomyomatosis;
Tuberous sclerosis-1
TSC2 Tuberous sclerosis-2
UMOD Glomerulocystic kidney disease
with hyperuricemia and isosthenuria;
Hyperuricemic nephropathy, familial juvenile 1;
Medullary cystic kidney disease 2
VHL Erythrocytosis, familial, 2;
Pheochromocytoma; von Hippel-Lindau syndrome
ZNF423 Nephronophthisis 14

Polycystic Kidney Disease NGS panel

Published 15/08/2019

Polycystic Kidney Disease NGS panel

Genes
(full coding
region):		 ALG8, ANKS6, BICC1, COL4A1, DNAJB11, DZIP1L, GANAB, HNF1B, LRP5, MUC1, NOTCH2, OFD1, PKD1, PKD2, PKHD1, PRKCSH, SEC63, SEC61A1, TSC1, TSC2, UMOD, VHL, ZNF423

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 Nephrotic Syndrome NGS panel

Published 15/08/2019

List of diseases covered by
Nephrotic Syndrome NGS panel

Gene Condition
ACTN4 Glomerulosclerosis, focal segmental, 1
ARHGDIA Nephrotic syndrome, type 8
COQ2 Coenzyme Q10 deficiency, primary, 1
COQ8B Nephrotic syndrome, type 9
DGKE Nephrotic syndrome, type 7
EMP2 Nephrotic syndrome, type 10
ITGA3 Interstitial lung disease, nephrotic syndrome,
and epidermolysis bullosa, congenital
LAMB2 Nephrotic syndrome, type 5,
with or without ocular abnormalities; Pierson syndrome
NPHS1 Nephrotic syndrome, type 1
NPHS2 Nephrotic syndrome, type 2
PLCE1 Nephrotic syndrome, type 3
PTPRO Nephrotic syndrome, type 6
SMARCAL1 Schimke immunoosseous dysplasia
WDR73 Galloway-Mowat syndrome 1
WT1 Wilms tumor, type 1; Denys-Drash syndrome;
Frasier syndrome; Meacham syndrome;
Nephrotic syndrome, type 4

Nephrotic Syndrome NGS panel

Published 15/08/2019

Nephrotic Syndrome NGS panel

Genes
(full coding
region):		 ACTN4, ARHGDIA, COQ2, COQ8B, DGKE, EMP2, ITGA3, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, SMARCAL1, WDR73, WT1

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 Nephronophthisis NGS panel

Published 12/08/2019

List of diseases covered by
Nephronophthisis NGS panel

Gene Condition
ANKS6 Nephronophthisis 16
CEP83 Nephronophthisis 18
CEP164 Nephronophthisis 15
CEP290 Bardet-Biedl syndrome 14;
Joubert syndrome 5; Leber congenital amaurosis 10;
Meckel syndrome 4; Senior-Loken syndrome 6
DCDC2 Nephronophthisis 19;
Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal
GLIS2 Nephronophthisis 7
INVS Nephronophthisis 2, infantile
IFT172 Retinitis pigmentosa 71;
Short-rib thoracic dysplasia 10 with or without polydactyly
IQCB1 Senior-Loken syndrome 5
NEK8 Nephronophthisis 9;
Renal-hepatic-pancreatic dysplasia 2
NPHP1 Joubert syndrome 4;
Nephronophthisis 1, juvenile; Senior-Loken syndrome-1
NPHP3 Meckel syndrome 7; Nephronophthisis 3;
Renal-hepatic-pancreatic dysplasia 1
NPHP4 Senior-Loken syndrome 4
RPGRIP1L COACH syndrome; Joubert syndrome 7;
Meckel syndrome 5
SDCCAG8 Bardet-Biedl syndrome 16;
Senior-Loken syndrome 7
TMEM67 RHYNS syndrome; COACH syndrome;
Joubert syndrome 6; Meckel syndrome 3; Nephronophthisis 11
TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly;
Nephronophthisis 12
WDR19 Senior-Loken syndrome 8; Nephronophthisis 13;
Short-rib thoracic dysplasia 5 with or without polydactyly;
Cranioectodermal dysplasia 4
XPNPEP3 Nephronophthisis-like nephropathy 1
ZNF423 Joubert syndrome 19

Nephronophthisis NGS panel

Published 12/08/2019

Nephronophthisis NGS panel

Genes
(full coding
regions):		 ANKS6, CEP83, CEP164, CEP290, DCDC2, GLIS2, INVS, IFT172, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423

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 Hemolytic Uremic Syndrome NGS panel

Published 12/08/2019

List of diseases covered by
Hemolytic Uremic Syndrome NGS panel

Gene Condition
ADAMTS13 Thrombotic thrombocytopenic purpura,
familial
C3 C3 deficiency; Hemolytic uremic syndrome,
atypical, susceptibility to, 5; Macular degeneration, age-related, 9
CD46 Hemolytic uremic syndrome, atypical,
susceptibility to, 2
CFB Complement factor B deficiency;
Hemolytic uremic syndrome, atypical, susceptibility to, 4;
CFH Complement factor H deficiency;
Hemolytic uremic syndrome, atypical, susceptibility to, 1;
Macular degeneration, age-related, 4; Basal laminar drusen
CFHR1 Hemolytic uremic syndrome, atypical,
susceptibility to
CFHR3 Hemolytic uremic syndrome, atypical,
susceptibility to
CFHR5 Nephropathy due to CFHR5 deficiency
CFI Complement factor I deficiency;
Hemolytic uremic syndrome, atypical, susceptibility to, 3;
Macular degeneration, age-related, 13, susceptibility to
DGKE Nephrotic syndrome, type 7;
Hemolytic uremic syndrome, atypical, susceptibility to, 7
THBD Thrombophilia due to thrombomodulin defect;
Hemolytic uremic syndrome, atypical, susceptibility to, 6

Ciliopathy NGS panel

Published 08/08/2019

Ciliopathy NGS panel

Genes
(full
coding
region):		 ACVR2B, ADGRV1, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2CD3, C2ORF71, C5ORF42, C8ORF37, C21ORF2, C21ORF59, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFTR, CLRN1, CRB1, CSPP1, DCDC2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, EVC, EVC2, FOXH1, GAS8, GDF1, GLIS2, IFT43, IFT80, IFT122, IFT140, IFT172, INPP5E, INVS, IQCB1, KIAA0586, KIF7, LEFTY2, LRRC6, MCIDAS, MKKS, MKS1, NEK1, NEK8, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PKD2, PKHD1, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SDCCAG8, SPAG1, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZIC3, ZMYND10, ZNF423

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

Asper Nephrology

Published 08/08/2019

Asper Nephrology

Bardet Biedl Syndrome
Bartter Syndrome
Branchiootorenal Syndrome
Ciliopathy
Hemolytic Uremic Syndrome
Hypomagnesemia
Nephronophthisis
Nephrotic Syndrome
Polycystic Kidney Disease
Primary Ciliary Dyskinesia
Senior-Loken Syndrome
Whole Exome Sequencing

Asper Nephrology offers gene panels for the diagnostics of hereditary renal diseases, including common monogenic diseases such as polycystic kidney disease, as well as complex disorders. To establish the genetic cause of renal diseases we use next-generation sequencing technology to accommodate a broad differential diagnosis. CNV analysis based on sequencing data is also available to enhance gene identification. Pathogenic/likely pathogenic findings are confirmed using additional technologies.

Accurate diagnosis of the precise genetic cause of the renal disorder is essential for genetic counseling and prediction of risks for affected individuals; furthermore, it allows prenatal diagnosis or pre-implantation genetic diagnosis.

 

Brunner Syndrome

Published 31/07/2019

Brunner Syndrome

Genes
(full coding
region):		 MAOA
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

List of diseases covered by Hereditary Hemorrhagic Telangiectasia NGS panel

Published 18/07/2019

List of diseases covered by
Hereditary Hemorrhagic Telangiectasia NGS panel

Gene Condition
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2
ENG Telangiectasia, hereditary hemorrhagic, type 1
GDF2 Telangiectasia, hereditary hemorrhagic, type 5
RASA1 Capillary malformation-arteriovenous malformation 1
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;
Myhre syndrome; Polyposis, juvenile intestinal

Hereditary Hemorrhagic Telangiectasia NGS panel

Published 18/07/2019

Hereditary Hemorrhagic Telangiectasia NGS panel

Genes
(full coding
region):		 ACVRL1, ENG, GDF2, RASA1, SMAD4

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

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Differential diagnosis
  3. Testing at-risk asymptomatic individuals
  4. Prenatal diagnosis for known familial mutation
  5. Genetic counseling

Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins.

Spontaneous recurrent nosebleeds are the most common and usually earliest clinical manifestation of HHT. Telangiectases are found primarily on the lips, tongue, buccal mucosa, face, chest, and fingers. AVMs occur most commonly in the lungs, liver, and brain. Major complications of HHT include severe anaemia from chronic nasal and gastrointestinal haemorrhage, stroke, deep venous thromboses, and severe pulmonary hypertension.

HHT affects 1 in 5–8000, and is inherited as an autosomal-dominant trait.

References:

Govani FS Shovlin CL 2009. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009 Jul; 17(7): 860–871. Published online 2009 Apr 1. doi: 10.1038/ejhg.2009.35
Kjeldsen ADet al 1999. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med. 1999;245:31–39.
McDonald J and Pyeritz RE 2000. Hereditary Hemorrhagic Telangiectasia. GeneReviews®. Last Update: February 2, 2017.

List of diseases covered by Prostate Cancer NGS panel

Published 05/07/2019

List of diseases covered by
Prostate Cancer NGS panel

Gene Condition
ATM Ataxia-telangiectasia; Breast cancer, susceptibility to
BRCA1 Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4;
Fanconi anemia, complementation group S
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
CHEK2 Breast cancer, susceptibility to; Prostate cancer, familial, susceptibility to;
Li-Fraumeni syndrome; Osteosarcoma, somatic
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8
HOXB13 Prostate cancer, hereditary, 9
MLH1 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome
MSH2 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome
MSH6 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 5;
Endometrial cancer, familial
NBN Nijmegen breakage syndrome; Leukemia, acute lymphoblastic;
Aplastic anemia
PALB2 Fanconi anemia, complementation group N;
Breast cancer, susceptibility to; Pancreatic cancer, susceptibility to, 3
RNASEL Prostate cancer 1
TP53 Breast cancer; Adrenal cortical carcinoma;
Choroid plexus papilloma;
Colorectal cancer; Li-Fraumeni syndrome;
Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer;
Basal cell carcinoma 7; Glioma susceptibility 1

Prostate Cancer NGS panel

Published 05/07/2019

Prostate Cancer NGS panel

Genes
(full coding
region):		 ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, RNASEL, TP53

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 Ectopia Lentis NGS panel

Published 06/05/2019

List of diseases covered by Ectopia Lentis NGS panel

Gene Condition
AASS Hyperlysinemia
ADAMTS10 Weill-Marchesani syndrome 1, recessive
ADAMTS17 Weill-Marchesani 4 syndrome, recessive
ADAMTSL4 Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive
ASPH Traboulsi syndrome
BCOR Microphthalmia, syndromic 2
CBS Homocystinuria, B6-responsive and nonresponsive types
COL8A2 Corneal dystrophy, Fuchs endothelial, 1;
Corneal dystrophy, posterior polymorphous 2
COL18A1 Knobloch syndrome, type 1
CYP1B1 Anterior segment dysgenesis 6, multiple subtypes;
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
FBN1 Ectopia lentis, familial; Acromicric dysplasia;
Geleophysic dysplasia 2; Marfan lipodystrophy syndrome;
Marfan syndrome; MASS syndrome; Stiff skin syndrome;
Weill-Marchesani syndrome 2, dominant
FOXC1 Anterior segment dysgenesis 3, multiple subtypes;
Axenfeld-Rieger syndrome, type 3
LTBP2 Microspherophakia and/or megalocornea,
with ectopia lentis and with or without secondary glaucoma;
Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3, recessive
PAX6 Aniridia;
Anterior segment dysgenesis 5, multiple subtypes;
Foveal hypoplasia 1; Keratitis; Optic nerve hypoplasia;
Coloboma of optic nerve; Coloboma, ocular
P3H2 Myopia, high,
with cataract and vitreoretinal degeneration
PORCN Focal dermal hypoplasia
SUOX Sulfite oxidase deficiency
VSX2 Microphthalmia with coloboma 3;
Microphthalmia, isolated 2

Ectopia Lentis NGS panel

Published 06/05/2019

Ectopia Lentis NGS panel

Genes: AASS, ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, BCOR, CBS, COL8A2, COL18A1, CYP1B1, FBN1, FOXC1, LTBP2, PAX6, P3H2, PORCN, SUOX, VSX2

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 Waardenburg Syndrome NGS panel

Published 14/01/2019

List of diseases covered by
Waardenburg Syndrome NGS panel

Gene Condition
EDN3 Waardenburg syndrome, type 4B
EDNRB Waardenburg syndrome, type 4A; ABCD syndrome
MITF Waardenburg syndrome, type 2A;
Waardenburg syndrome/ocular albinism, digenic; COMMAD syndrome;
Tietz albinism-deafness syndrome
PAX3 Waardenburg syndrome, type 1; Waardenburg syndrome, type 3;
Craniofacial-deafness-hand syndrome; Rhabdomyosarcoma 2, alveolar
SNAI2 Waardenburg syndrome, type 2D; Piebaldism
SOX10 Waardenburg syndrome, type 2E, with or without neurologic involvement;
Waardenburg syndrome, type 4C; PCWH syndrome
TYR Albinism, oculocutaneous, type IA; Albinism, oculocutaneous, type IB;
Waardenburg syndrome/albinism, digenic

Waardenburg Syndrome

Published 14/01/2019

Waardenburg Syndrome
NGS panel

Genes
(full coding
region):		 EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR

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
SThe 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: MITF, PAX3, SOX10
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. Carrier testing for at-risk relatives
  3. Genetic counseling

Waardenburg syndrome (WS) is a group of genetic conditions characterized by sensorineural hearing loss and pigmentary abnormalities of the iris, hair, and skin, along with dystopia canthorum. Hearing loss is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural.

The classic sign of hair pigmentation anomaly with WS is white forelock appearing typically in the teen years. Ocular pigmentary manifestations may include complete or segmental heterochromia or hypoplastic or brilliant blue irides.

Waardenburg syndrome affects an estimated 1 in 20,000-40,000 people.

Four types of WS can be distinguished by physical characteristics and genetic cause. Types I and III are inherited in an autosomal dominant manner, types II and IV are autosomal recessive.

References:

Farrer LA et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet. 1992;50:902–13.
Milunsky JM. Waardenburg Syndrome Type I. GeneReviews® 2001 July 30 (Updated 2014 Aug 7)
Shields CL et al. Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging. JAMA Ophthalmol. 2013;131:1167–73.
Tamayo ML et al. Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability. Am J Med Genet A. 2008;146A:1026–31.