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Ciliopathies (WES based NGS panel of 202 genes, including CNV analysis)
ACVR2B, ADGRV1, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ARMC9, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf2, C21orf59, C2CD3, C2orf71, C5orf42, C8orf37, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CC
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Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- Rare diseases, Obstetrics / Gynecology /PND, Ophthalmology, Pediatrics

CGC Reference

- 5293

Associated Tests

Retinitis pigmentosa (WES based NGS panel of 190 gene, including CNV analysis)
Congenital liver fibrosis (NGS panel of 53 genes)
Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
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)