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Alpha-methylacetoacetic aciduria (sequence analysis of ACAT1 gene)
ACAT1
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Methodology

Sanger sequencing


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

- 2487




Associated Tests


Movement diseases (WES based NGS panel of 905 genes, including CNV analysis)
Inborn errors of metabolism (WES based NGS panel of 833 genes, including CNV analysis)
Hypoglycemia (WES based NGS panel of 62 genes, including CNV analysis)