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Meckel syndrome 10 (sequence analysis of B9D2 gene)
B9D2
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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)

- 60

CPT Codes

- 81479

Specialties

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


CGC Reference

- 1612




Associated Tests


Congenital liver fibrosis (NGS panel of 53 genes)
Joubert syndrome (WES based NGS panel for 35 genes, including CNV analysis)
Meckel syndrome (NGS panel of 13 genes)
Ciliopathies (WES based NGS panel for 202 genes, including CNV analysis)