DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the DNMT1 (DNA methyltransferase 1) gene, which plays a crucial role in maintaining DNA methylation patterns essential for proper neurological function. When mutations occur in this gene through autosomal recessive inheritance, individuals may develop a complex syndrome characterized by progressive cerebellar ataxia, sensorineural hearing loss, and narcolepsy symptoms.
What This Test Measures and Detects
This comprehensive NGS-based genetic test provides detailed analysis of the entire DNMT1 gene to identify:
- Autosomal recessive mutations in the DNMT1 gene
- Pathogenic variants associated with cerebellar ataxia development
- Genetic markers linked to progressive hearing impairment
- Mutations contributing to narcolepsy and sleep disturbances
- Inheritance patterns for family genetic counseling
The test utilizes state-of-the-art Next-Generation Sequencing technology to examine every coding region of the DNMT1 gene, ensuring maximum detection sensitivity for both known and novel mutations that could be missed by conventional testing methods.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing the following symptoms or family history patterns:
- Progressive difficulty with coordination and balance (cerebellar ataxia)
- Gradual hearing loss beginning in childhood or early adulthood
- Excessive daytime sleepiness and sudden sleep attacks
- Family history of similar neurological symptoms
- Unexplained gait abnormalities and tremors
- Cataplexy episodes triggered by strong emotions
- Sleep paralysis or hypnagogic hallucinations
- Consanguineous parentage increasing autosomal recessive risk
Significant Benefits of Early Genetic Diagnosis
Obtaining a precise genetic diagnosis through this test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms the specific genetic cause of symptoms, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted management strategies for ataxia, hearing loss, and sleep disorders
- Family Planning Guidance: Provides crucial information for reproductive decisions and genetic counseling
- Prognostic Information: Helps anticipate disease progression and prepare for future needs
- Clinical Trial Eligibility: Opens opportunities for participation in specialized research studies
- Early Intervention: Facilitates timely implementation of supportive therapies and accommodations
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists. The report will clearly indicate:
- Positive Result: Identifies pathogenic mutations in the DNMT1 gene, confirming the genetic diagnosis and enabling comprehensive management planning
- Negative Result: No disease-causing mutations detected, suggesting symptoms may have alternative causes requiring further investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires additional research and family studies
- Carrier Status: Identifies individuals carrying one copy of a mutated gene who may pass the condition to offspring if their partner is also a carrier
All positive results include detailed explanations of the specific mutations found and their clinical implications, along with personalized recommendations for ongoing care and family member testing.
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
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Neurological Health Today
Don’t let uncertainty about your neurological symptoms delay proper diagnosis and treatment. Our specialized genetic testing provides the clarity needed to make informed healthcare decisions and access appropriate support services. Our team of genetic counselors and neurological specialists are available 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 appointment or speak with a genetic counselor about whether this test is right for you. Early genetic diagnosis can significantly improve quality of life and treatment outcomes for individuals with DNMT1-related disorders.
Remember to bring your clinical history and be prepared for a genetic counseling session to create a detailed family pedigree chart, which is essential for accurate interpretation of your test results and understanding inheritance patterns within your family.
