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