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Tangier disease (sequence analysis of ABCA1 gene)
ABCA1
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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

CPT Codes

- 81479

Specialties

- Rare diseases, Endocrinology, Ophthalmology, Pediatrics


CGC Reference

- 1348




Associated Tests


Hypercholesterolemia, familial (NGS panel of 15 genes)
Movement diseases (WES based NGS panel of 905 genes, including CNV analysis)
Inborn errors of metabolism (WES based NGS panel of 833 genes, including CNV analysis)
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (WES based NGS panel of 178 genes, including CNV analysis)
Dyslipidemia (WES based NGS panel of 25 genes, including CNV analysis)