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Thiamine-responsive megaloblastic anemia syndrome (sequence analysis of SLC19A2 gene)
SLC19A2
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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, Endocrinology, Pediatrics


CGC Reference

- 1488




Associated Tests


Left ventricular noncompaction (LVNC, NGS panel of 13 genes)
Sideroblastic anemia (NGS panel of 9 genes)
Pyruvate carboxylase deficiency (WES based NGS panel of 25 genes, including CNV analysis)