< Back to results
 
Renal tubular acidosis, distal | Hereditary spherocytosis type 4 | Cryohydrocytosis | Southeast Asian ovalocytosis (sequence analysis of SLC4A1 gene)
SLC4A1
Request Now


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)