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