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Biotinidase deficiency (deletion/duplication analysis of BTD gene)
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Real-time quantitative PCR (RT-qPCR)

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- Rare diseases, Endocrinology, Neurology / Neuropediatrics, Pediatrics, Metabolic Diseases

CGC Reference

- 4425

Associated Tests

Biotinidase deficiency (sequence analysis of BTD gene)
Genetic carrier test (NGS panel of 101 genes)
Genetic deafness (WES based NGS panel of 226 genes, including CNV analysis)
Hereditary ataxias (WES based NGS panel of 214 genes, including CNV analysis)
Mitochondrial diseases (WES based NGS panel of 268 genes, including CNV analysis)