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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 |
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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)