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Renal tubular acidosis, distal, AR (NGS panel for 3 genes)
ATP6V0A4, ATP6V1B1, 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, Nephrology, Metabolic Diseases


CGC Reference

- 3512




Associated Tests


Bartter syndrome and differential diagnosis (NGS panel of 28 genes)
Genetic deafness (WES based NGS panel for 385 genes)
Lysosomal and peroxisomal diseases (NGS panel of 108 genes)
Renal tubular acidosis, distal (sequence analysis of ATP6V1B1 gene)
Hereditary spherocytosis type 4 (sequence analysis of SLC4A1 gene)