TMEM67 Gene COACH Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The TMEM67 Gene COACH Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in the field of neurological genetics. This specialized test utilizes next-generation sequencing technology to analyze the TMEM67 gene, which plays a critical role in the development and function of the cerebellum and other vital organs. COACH syndrome, characterized by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay), Ataxia, Coloboma, and Hepatic fibrosis, is a rare autosomal recessive disorder that requires precise genetic diagnosis for proper management and treatment planning.
What Does This Test Measure?
This advanced genetic test specifically targets the TMEM67 gene, which encodes the transmembrane protein 67 essential for ciliary function and brain development. The test detects:
- Point mutations and small insertions/deletions in the TMEM67 gene
- Pathogenic variants associated with COACH syndrome and Joubert syndrome
- Genetic markers for cerebellar malformations and hepatic complications
- Inheritance patterns for family planning and genetic counseling
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Developmental delays and intellectual disability
- Cerebellar ataxia and coordination difficulties
- Ocular abnormalities including coloboma and retinal dystrophy
- Hepatic fibrosis or liver function abnormalities
- Abnormal breathing patterns in infancy
- Family history of Joubert syndrome or related disorders
- Unexplained neurological symptoms with cerebellar involvement
Benefits of TMEM67 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out COACH syndrome with high precision
- Early Intervention: Enables timely management of neurological and hepatic complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on genetic findings
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Interpretation Guidance
Your genetic test results will be carefully analyzed and interpreted by our expert geneticists:
- Positive Result: Indicates the presence of pathogenic mutations in the TMEM67 gene, confirming COACH syndrome diagnosis
- Negative Result: Suggests no disease-causing variants were detected in the TMEM67 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Details and Pricing
| Test Information | Details |
|---|---|
| Test Name | TMEM67 Gene COACH Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history and symptom documentation
- Participation in genetic counseling session
- Family pedigree chart detailing affected relatives
- Informed consent for genetic testing
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network of certified genetic counselors and neurologists ensures comprehensive care regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. The TMEM67 Gene COACH Syndrome NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your TMEM67 genetic test. Take the first step toward understanding your neurological health with confidence and precision.
