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Bloom syndrome (deletion/duplication analysis on BLM gene)
BLM
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Methodology

Real-time quantitative PCR (RT-qPCR)


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, Neurology / Neuropediatrics, Oncology, Pediatrics


CGC Reference

- 5091




Associated Tests


Bloom syndrome (sequence analysis of BLM gene)
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)