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Biotinidase deficiency (sequence analysis of BTD gene)
BTD
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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

CPT Codes

- 81404

Specialties

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


CGC Reference

- 1260




Associated Tests


Biotinidase deficiency (deletion/duplication analysis of BTD gene)
Genetic carrier test (NGS panel of 101 genes)
Genetic deafness (WES based NGS panel for 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)