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Ataxia telangiectasia (sequencing and CNV analyses of ATM 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

CPT Codes

- 81408


- Rare diseases, Neurology / Neuropediatrics, Oncology

CGC Reference

- 500

Associated Tests

Detection by FISH of ATM (11q22.3) deletion
Ataxia-telangiectasia (deletion/duplication analysis on ATM gene)
OncoRisk (NGS panel for 48 genes, including CNV analysis)
OncoRisk Expanded (NGS panel for 89 genes, including CNV analysis)
Colorectal cancer (WES based NGS panel of 30 genes, including CNV analysis)