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Lacticacidemia due to PDX1 deficiency (sequence analysis of PDHX gene)
PDHX
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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)
Pyruvate carboxylase deficiency (WES based NGS panel of 25 genes, including CNV analysis)