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Gamma-aminobutyric acid transaminase deficiency (sequence analysis of ABAT gene)
ABAT
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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

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics, Metabolic Diseases


CGC Reference

- 3534




Associated Tests


Movement diseases (WES based NGS panel for 905 genes, including CNV analysis)
Epilepsy (WES based NGS panel for 596 genes, including CNV analysis)
Inborn errors of metabolism (WES based NGS panel for 833 genes, including CNV analysis)
Gamma-aminobutyric acid transaminase deficiency (deletion/duplication analysis of ABAT gene)
Mitochondrial diseases (WES based NGS panel of 268 genes, including CNV analysis)