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Alpha-thalassemia X-linked intellectual disability syndrome (sequence analysis of ATRX gene)
ATRX
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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, Hematology, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5543




Associated Tests


Diseases of sexual development (WES based NGS panel of 46 genes, including CNV analysis)
Female infertility (NGS panel of 131 gene)
Male Infertility (WES based NGS panel of 116 gene, including CNV analysis)
Epileptic encephalopathy (WES based NGS panel of 137 genes, including CNV analysis)
Mental retardation, X-linked (NGS panel for 89 genes)