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Ataxia telangiectasia (sequencing and CNV analyses of ATM gene)
ATM
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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

CPT Codes

- 81408

Specialties

- 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)