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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 |
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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)