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Renal tubular acidosis, distal | Hereditary spherocytosis type 4 | Cryohydrocytosis | Southeast Asian ovalocytosis (sequence analysis of SLC4A1 gene)
SLC4A1
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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 |
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
Specialties
- Rare diseases, Hematology, Nephrology, Pediatrics, Metabolic Diseases
CGC Reference
- 5489
Associated Tests
Renal tubular acidosis, distal (deletion/duplication analysis on SLC4A1 gene)
Hereditary spherocytosis (NGS panel of 5 genes)
Renal tubular acidosis, distal, AR (NGS panel of 5 genes)
Hemolytic anemia (WES based NGS panel of 33 genes, including analysis of CNVs)
Renal calcifications (nephrocalcinosis) (NGS panel of 37 genes)