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Lacticacidemia due to PDX1 deficiency (sequence analysis of PDHX gene)
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Sanger sequencing

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)
Dystonia (WES based NGS panel of 117 genes, including CNV analysis)
Pyruvate carboxylase deficiency (WES based NGS panel of 25 genes, including CNV analysis)
Mitochondrial diseases (WES based NGS panel of 268 genes, including CNV analysis)