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Alpha-thalassemia X-linked intellectual disability syndrome (sequence analysis of ATRX gene)
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Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- 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)