Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
ACE, ACTA2, ACTG2, ACTN4, AGT, AGTR1, AHI1, ALG1, ALMS1, AMN, ANKS6, ANLN, ANOS1, APOL1, ARHGAP24, ARHGDIA, ARL13B, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS9, BICC1, BMP4, BSND, C3, C5orf42, CC2D2A, CCDC28B, CD151, CD2AP, CD46, CEP164, CEP290, CEP4
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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
CGC Reference
- 5015
Associated Tests
Polycystic kidney disease and related diseases (WES based NGS panel of 72 genes, including CNV analysis)
Ciliopathies (WES based NGS panel of 202 genes, including CNV analysis)
Congenital liver fibrosis (NGS panel of 53 genes)
Diseases of the posterior ocular segment (WES based NGS panel for 307 gene, including CNV analysis)
Retinal diseases (WES based NGS panel of 309 genes, including CNV analysis)