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Basal ganglia calcification, idiopathic 1 (sequence anaysis of SLC20A2 gene)
SLC20A2
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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

Specialties

- Rare diseases, Neurology / Neuropediatrics


CGC Reference

- 3318




Associated Tests


Structural diseases of basal ganglia (WES based NGS panel of 72 genes, including CNV analysis)
Dystonia (WES based NGS panel of 117 genes, including CNV analysis)
Movement diseases (WES based NGS panel of 905 genes, including CNV analysis)
Hereditary ataxias (WES based NGS panel of 214 genes, including CNV analysis)
Movement diseases (WES based NGS panel of 929 genes, including CNV analysis)