BLM Gene Bloom Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Bloom Syndrome
The BLM Gene Bloom Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the BLM gene, which are responsible for Bloom syndrome. This rare autosomal recessive disorder affects multiple body systems and requires specialized genetic analysis for accurate diagnosis. Our advanced NGS technology provides comprehensive coverage of the BLM gene, ensuring high detection rates for clinically significant variants.
What Does This Test Measure?
This specialized genetic test specifically targets the BLM gene located on chromosome 15q26.1, which encodes the RecQ helicase protein essential for maintaining genomic stability. The test detects:
- Pathogenic mutations in the BLM gene
- Single nucleotide variants (SNVs)
- Small insertions and deletions (indels)
- Copy number variations (CNVs)
- Complex rearrangements affecting gene function
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of Bloom syndrome, including:
- Proportional growth deficiency and short stature
- Characteristic facial features including narrow face and prominent nose
- Sun-sensitive skin changes and telangiectasia
- Increased susceptibility to infections
- Family history of Bloom syndrome or consanguinity
- Unexplained developmental delays
- Increased cancer risk at young age
Clinical Benefits of Testing
Undergoing the BLM Gene Bloom Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Bloom syndrome with high precision
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Early Intervention: Enables proactive management of associated health risks
- Cancer Surveillance: Facilitates appropriate cancer screening protocols
- Genetic Counseling: Supports informed decision-making for affected families
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your BLM gene status:
- Positive Result: Indicates the presence of pathogenic mutations in both BLM gene copies, confirming Bloom syndrome diagnosis
- Carrier Status: Identifies individuals with one mutated BLM gene copy who are asymptomatic carriers
- Negative Result: Suggests absence of detectable BLM gene mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| BLM Gene Bloom Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| BLM Gene Bloom Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent testing quality and reliable results nationwide.
Take Action Today
Don’t wait to get the answers you need about Bloom syndrome risk. Our experienced genetic counselors are available to discuss your testing options and provide comprehensive pre-test counseling. Schedule your BLM Gene Bloom Syndrome NGS Genetic DNA Test today by calling our dedicated genetics hotline at +1(267) 388-9828 or booking your appointment online through our secure patient portal.
Important Note: This test requires clinical history documentation and a genetic counseling session to create a detailed family pedigree chart before sample collection. The turnaround time for results is typically 3-4 weeks from sample receipt at our laboratory.
