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Renal tubular acidosis, distal | Hereditary spherocytosis type 4 | Cryohydrocytosis | Southeast Asian ovalocytosis (sequence analysis of SLC4A1 gene)
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Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- 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)