|
Meckel syndrome 9 (sequence analysis of B9D1 gene)
B9D1
|
Request Now |
Methodology
Sanger sequencing
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
- 1611
Associated Tests
Congenital liver fibrosis (NGS panel of 53 genes)
Joubert syndrome (WES based NGS panel of 35 genes, including CNV analysis)
Meckel syndrome (NGS panel of 13 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)