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Methylmalonic aciduria (NGS panel for 15 genes)
ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1,
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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)
- 45
Specialties
- Rare diseases, Neurology / Neuropediatrics, Pediatrics, Metabolic Diseases
CGC Reference
- 5326
Associated Tests
Vitamin B12 Deficiency (NGS panel of 20 genes)
Movement diseases (WES based NGS panel for 905 genes, including CNV analysis)
Inborn errors of metabolism (WES based NGS panel for 833 genes, including CNV analysis)
Chromosome analysis of amniotic fluid
Chromosome analysis of fibroblasts