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X-linked sideroblastic anemia (sequence analysis of ALAS2 gene)
ALAS2
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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, Hematology, Pediatrics
CGC Reference
- 551
Associated Tests
Sideroblastic anemia (NGS panel of 9 genes)
Acute porphyria (NGS panel of 9 genes)
Thrombocytopenia and inherited bone marrow failure (WES based NGS panel of 109 genes, including CNV analysis)
Hereditary ataxias (WES based NGS panel of 214 genes, including CNV analysis)