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Lacticacidemia due to PDX1 deficiency (sequence analysis of PDHX 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, Endocrinology, Neurology / Neuropediatrics, Pediatrics, Metabolic Diseases

CGC Reference

- 2462

Associated Tests

Leigh syndrome (NGS panel for 11 genes)
Pyruvate carboxylase deficiency (NGS panel of 6 genes)
Pyruvate carboxylase deficiency (WES based NGS panel of 25 genes, including CNV analysis)