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Bloom syndrome (sequence analysis of BLM gene)
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Sanger sequencing

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

- 81209


- Rare diseases, Neurology / Neuropediatrics, Oncology, Pediatrics

CGC Reference

- 1099

Associated Tests

OncoRisk Expanded (NGS panel for 89 genes, including CNV analysis)
Progeroid syndromes (NGS panel for 12 genes)
Wilms tumor (WES based NGS panel of 15 genes, including CNV analysis)
Ashkenazi panel (NGS panel of 26 genes)
Colorectal cancer (WES based NGS panel of 30 genes, including CNV analysis)