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NKX2-1
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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

- 81479

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics, Pulmonology/Pneumology


CGC Reference

- 641




Associated Tests


Benign hereditary chorea | Choreoathetosis and congenital hypothyroidism | Thyroid cancer nonmedullary, susceptibility (deletion/duplication analysis on NKX2-1 gene)
Central nervous system channelopathies (NGS panel of 23 genes)
Hereditary non medullary thyroid carcinoma (WES based NGS panel of 26 genes, including CNV analysis)
Hereditary chorea (WES based NGS panel for 14 genes, including CNV analysis)