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Meckel syndrome (NGS panel of 13 genes)
B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM107, TMEM216, TMEM231, TMEM67
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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)

- 45


- Rare diseases, Nephrology, Neurology / Neuropediatrics, Pediatrics

CGC Reference

- 5152

Associated Tests

Joubert syndrome (WES based NGS panel of 35 genes, including CNV analysis)
Congenital liver fibrosis (NGS panel of 53 genes)
Nephronophthisis (NGS panel of 19 genes)
Ciliopathies (WES based NGS panel of 202 genes, including CNV analysis)
Polycystic kidney disease and related diseases (WES based NGS panel of 72 genes, including CNV analysis)