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Baraitser-Winter syndrome 1 (sequence analysis of ACTB gene)
ACTB
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Methodology

Sanger sequencing


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, Pediatrics


CGC Reference

- 2640




Associated Tests


Dystonia juvenile-onset (sequence analysis of ACTB gene)
Immunodeficiencies - congenital defects of phagocyte number and/or function (WES based NGS panel of 38 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)
Malformations of cortical development (lissencephaly, periventricular nodular heterotopia, polymicrogyria, megalencephaly-polymicrogyria and dysplastic megalencephaly) (NGS panel of 66 genes)