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Polycystic kidney disease and related diseases (WES based NGS panel of 72 genes, including CNV analysis)
AHI1, ALG8, ALG9, ANKS6, ARL13B, ARL6, ATP6V0A4, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS9, BICC1, C5ORF42, CC2D2A, CCDC28B, CEP164, CEP290, CEP41, COL4A1, DGUOK, DNAJB11, DZIP1L, GANAB, GLA, GLIS2, GLIS3 , HNF1B, INPP5E, INVS, IQCB1, KIF7, LRP5 ,
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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)

- 60

Specialties

- Rare diseases, Nephrology, Pediatrics


CGC Reference

- 5322




Associated Tests


Congenital liver fibrosis (NGS panel of 53 genes)
Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
Ciliopathies (WES based NGS panel of 202 genes, including CNV analysis)
Retinitis pigmentosa (WES based NGS panel of 190 gene, including CNV analysis)
Diseases of the posterior ocular segment (WES based NGS panel for 307 gene, including CNV analysis)