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Vitamin B12 Deficiency (NGS panel of 20 genes)
ABCD4, ACSF3, CBS, CD320, GIF, HCFC1, IVD, LMBRD1, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1, SUCLG2, TCN2
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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, Gastroenterology, Neurology / Neuropediatrics, Pediatrics, Metabolic Diseases
CGC Reference
- 4824
Associated Tests
Methylmalonic aciduria (NGS panel for 15 genes)
Doenças estruturais dos gânglios basais (painel de NGS baseado em WES de 72 genes, including CNV analysis)
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)
Methylmalonic aciduria (sequence analysis of MUT gene)