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Pyruvate carboxylase deficiency (deletion/duplication analysis on PC gene)
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Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


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

CGC Reference

- 5033

Associated Tests

Pyruvate carboxylase deficiency (sequence analysis of PC gene)
Pyruvate carboxylase deficiency (WES based NGS panel of 25 genes, including CNV analysis)
Niemann-Pick disease type C1 (sequence analysis of NPC1 gene)
Familial adenomatous polyposis (sequencing and CNV analyses of APC gene)
Hereditary nonpolyposis colorectal cancer (HNPCC, deletion/duplication analysis on MLH1, MSH2 and EPCAM genes)