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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
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)

- 45

Specialties

- Rare diseases, Nephrology, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5152




Associated Tests


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