Test Code: BLMSYN

Genes: BLM (1 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing.

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1,500

Description:
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.