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Nephronophthisis (NGS panel of 19 genes)
ANKS6, CEP164, CEP290, CEP83, DCDC2, GLIS2, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423
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Methodology

NGS


Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 45

Specialties

- Rare diseases, Nephrology


CGC Reference

- 5154




Associated Tests


Congenital liver fibrosis (NGS panel of 53 genes)
Senior-Loken syndrome (NGS panel of 7 genes)
Polycystic kidney disease and related diseases (WES based NGS panel of 72 genes, including CNV analysis)
Joubert syndrome (WES based NGS panel of 35 genes, including CNV analysis)
Meckel syndrome (NGS panel of 13 genes)