DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy, Autosomal Recessive NGS Genetic Test
Short Name: DNMT1 Genetic Test
Also known as: Autosomal Recessive Cerebellar Ataxia-Deafness-Narcolepsy Syndrome, DNMT1-Related Neurological Disorder
DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy, Autosomal Recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect pathogenic mutations in the DNMT1 gene responsible for cerebellar ataxia with deafness and narcolepsy. It confirms diagnosis, differentiates from other neurological disorders, informs treatment strategies, and enables genetic counseling for affected families.
- Test Code
- 1536
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical history and family pedigree during genetic counseling. No fasting required, but samples should be collected at ambient room temperature.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect a blood sample using standard venipuncture techniques. For FTA cards, a single drop of blood is applied.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball. Avoid strenuous activity with the arm for a short period.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the DNMT1 gene responsible for cerebellar ataxia with deafness and narcolepsy. It confirms diagnosis, differentiates from other neurological disorders, informs treatment strategies, and enables genetic counseling for affected families.
How to Prepare
- Ensure proper patient identification and sample labeling
- Transport blood samples at ambient temperature to the lab promptly
- Use sterile collection equipment to prevent contamination
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for DNMT1 mutations can facilitate accurate diagnosis, guide management, and support family counseling for this rare disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood samples
- Incorrectly labeled or unlabeled samples
- Insufficient sample volume
- Samples collected with improper anticoagulants
Understanding Your Results
Positive for Pathogenic Variant
Confirms diagnosis of DNMT1 gene cerebellar ataxia with deafness and narcolepsy; guides management and family counseling.
Negative for Pathogenic Variant
No mutations detected; consider other genetic or non-genetic causes of symptoms.
Variant of Uncertain Significance (VUS)
Genetic change of unknown clinical significance; further family studies or functional analysis may be needed.
Consult a doctor if you or a family member experience symptoms such as unsteady movement, hearing loss, excessive sleepiness, or developmental delays, especially with a family history of neurological disorders.
Limitations
- ⚠Detects only mutations in the DNMT1 gene; may not identify other genetic causes of similar symptoms
- ⚠Cannot determine disease severity or progression solely based on genetic findings
- ⚠Variant interpretation may require additional family studies
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or slight pain at the puncture site
- ●Very low risk of infection
- ●Psychological impact of genetic results, requiring counseling support
Interfering Factors
- ●Hemolyzed or degraded blood sample
- ●Insufficient DNA quantity or quality
- ●Contamination during sample processing
Compare With Similar Tests
| Test | DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy, Autosomal Recessive NGS Genetic Test | Spinocerebellar Ataxia Panel | Narcolepsy Genetic Test | Deafness Gene Panel | Comprehensive Neurological NGS Panel |
|---|---|---|---|---|---|
| Comparison | DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy, Autosomal Recessive NGS Genetic Test |
Frequently Asked Questions
What is the DNMT1 Genetic Test?
Who should consider this test?
What is the cost of the test in India?
How is the test performed?
What do the results mean?
Is fasting required before the test?
How long does it take to get results?
Is home collection available?
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Can the test detect all mutations?
Is genetic counseling included?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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