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Benign hereditary chorea | Choreoathetosis and congenital hypothyroidism | Thyroid cancer nonmedullary, susceptibility (deletion/duplication analysis on NKX2-1 gene)
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Deletion/duplication analysis by MLPA

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Fetal DNA ≥ 20 µL [25 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
Amniotic fluid ≥ 5 mL Sterile tube Room temp. 4
Chorionic villus sampling (CVS) ≥ 30 mg Sterile tube + transport medium Room temp. 4
Cell culture 2 x T25 confluent Sterile tube + transport medium Room temp. 2
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)

- 30


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

CGC Reference

- 3492

Associated Tests

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 of 14 genes, including CNV analysis)
Pulmonary surfactant metabolism dysfunction (NGS panel of 8 genes)