B9D1 Gene Meckel Syndrome Type 9 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorders
The B9D1 Gene Meckel Syndrome Type 9 NGS Genetic DNA Test represents a cutting-edge diagnostic tool in modern medical genetics. This specialized test utilizes advanced Next-Generation Sequencing (NGS) technology to identify mutations in the B9D1 gene, which plays a critical role in cellular function and development. Meckel Syndrome Type 9 is a rare autosomal recessive disorder characterized by complex multi-system involvement, making accurate genetic diagnosis essential for proper medical management and family planning.
What Does This Test Detect?
This comprehensive genetic test specifically targets and analyzes the B9D1 gene for pathogenic variants associated with Meckel Syndrome Type 9. The test detects:
- Point mutations and single nucleotide variants in the B9D1 gene
- Small insertions and deletions affecting gene function
- Copy number variations that may impact gene expression
- Compound heterozygous mutations in autosomal recessive inheritance patterns
The B9D1 gene encodes a protein crucial for ciliary function and cellular signaling pathways. Mutations in this gene disrupt normal developmental processes, leading to the characteristic features of Meckel Syndrome Type 9.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms or risk factors associated with Meckel Syndrome Type 9, including:
- Newborns or infants with congenital anomalies affecting multiple organ systems
- Individuals with unexplained liver and kidney dysfunction
- Patients with developmental delays and neurological abnormalities
- Families with history of recurrent pregnancy loss or stillbirth
- Individuals with endocrine system disorders of unknown origin
- Couples with family history of Meckel Syndrome seeking preconception genetic counseling
Clinical Benefits of Genetic Testing
Undergoing the B9D1 Gene Meckel Syndrome Type 9 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of Meckel Syndrome Type 9, eliminating diagnostic uncertainty
- Family Planning Guidance: Enables informed reproductive decisions for affected families
- Early Intervention: Facilitates timely medical management and specialized care planning
- Genetic Counseling: Supports comprehensive genetic counseling for at-risk family members
- Research Contribution: Contributes to ongoing research and understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into one of the following categories:
- Positive Result: Identifies pathogenic mutations in the B9D1 gene, confirming diagnosis of Meckel Syndrome Type 9
- Negative Result: No disease-causing mutations detected, though does not completely rule out other genetic causes
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical significance requiring further evaluation
- Carrier Status: Identifies individuals carrying one copy of a mutated gene who may pass the condition to offspring
Our genetic counseling team will provide comprehensive explanation of your results and discuss implications for your health and family planning.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let genetic uncertainty impact your health decisions. Our specialized genetic testing provides the answers you need for informed medical care and family planning. Contact our genetic counseling team today to schedule your B9D1 Gene Meckel Syndrome Type 9 NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828
Schedule your genetic counseling session and book your test today for comprehensive genetic analysis and peace of mind.
