Test Code: BLMSYN
Bloom syndrome
Oncogenetics
Bloom syndrome is a rare autosomal recessive disorder caused by mutations in the BLM gene. It is characterized by genomic instability, short stature, sun-sensitive skin rash, immune dysfunction, and a markedly increased risk of cancer. Diagnosis relies on clinical features, cytogenetic findings, and genetic testing, while management focuses on surveillance and supportive care. Bloom syndrome is a classic example of a chromosomal instability disorder.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
1 genes
BLM
Methodology
Capture-based target enrichment and Next Generation Sequencing.
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