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Meckel syndrome type 6 (sequence analysis of CC2D2A gene)
CC2D2A
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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

CPT Codes

- 81479

Specialties

- Rare diseases, Gastroenterology, Nephrology, Neurology / Neuropediatrics, Obstetrics / Gynecology /PND, Pediatrics, Dysmorphology


CGC Reference

- 1674




Associated Tests


Joubert syndrome type 9 (sequence analysis of CC2D2A gene)
Congenital liver fibrosis (NGS panel of 53 genes)
Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
Joubert syndrome (WES based NGS panel of 35 genes, including CNV analysis)
Meckel syndrome (NGS panel of 13 genes)