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Propionic acidemia (sequence analysis of PCCB gene)
PCCB
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Methodology

NGS


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, Neurology / Neuropediatrics, Pediatrics, Metabolic Diseases


CGC Reference

- 5690




Associated Tests


Propionic Acidemia (NGS panel of 5 genes)
Epilepsy (WES based NGS panel for 596 genes, including CNV analysis)
Inborn errors of metabolism (WES based NGS panel of 834 genes, including CNV analysis)
Propionic acidemia (deletion/duplication analysis on PCCA and PCCB gene)
Movement diseases (WES based NGS panel of 929 genes, including CNV analysis)