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Alpha methylacyl CoA racemase deficiency (sequence analysis of AMACR gene)
AMACR
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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

- 2359




Associated Tests


Lysosomal and peroxisomal diseases (NGS panel of 108 genes)
Cholestasis (neonatal, familial intrahepatic and differential diagnoses - WES based NGS panel of 95 genes, including CNV analysis)
Hereditary ataxias (WES based NGS panel of 214 genes, including CNV analysis)