Short Description

NGS genetic DNA test detecets for variant and mutation detection in DNMT1 gene for Cerebellar ataxia with deafness and narcolepsy, autosomal recessive

PreTest Information

Clinical History of Patient who is going for DNMT1 Gene Cerebellar ataxia with deafness and narcolepsy, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DNMT1 Gene Cerebellar ataxia with deafness and narcolepsy, autosomal recessive

Detail Description

DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

DNMT1 gene cerebellar ataxia with deafness and narcolepsy is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the DNMT1 gene, which is responsible for encoding an enzyme that plays a key role in DNA methylation. This disorder is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated gene, one from each parent.

Symptoms of DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy

The symptoms of DNMT1 gene cerebellar ataxia with deafness and narcolepsy can vary widely in severity and onset. The most common symptoms include:

• Cerebellar ataxia - which is a lack of muscle coordination that can affect movement, balance, and speech
• Deafness - which can be partial or total
• Narcolepsy - which is a neurological disorder characterized by excessive daytime sleepiness and sudden sleep attacks
• Delayed motor development - which can affect a child's ability to crawl, walk, or sit up

Other less common symptoms may include muscle weakness, vision problems, and seizures.

Diagnosis of DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy

DNMT1 gene cerebellar ataxia with deafness and narcolepsy can be diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA tests are used to identify mutations in the DNMT1 gene. These tests can detect the specific mutation responsible for the disorder, which can help with diagnosis and genetic counseling.

Other diagnostic tests that may be performed include a physical exam, neurological exam, and hearing tests.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for DNMT1 gene cerebellar ataxia with deafness and narcolepsy can vary depending on the testing facility and location. In India, the cost of the test is typically around INR 20,000.

Conclusion

DNMT1 gene cerebellar ataxia with deafness and narcolepsy is a rare genetic disorder that affects the nervous system. Symptoms can vary widely in severity and onset, and diagnosis is typically made through genetic testing. Next-generation sequencing (NGS) genetic DNA tests can detect the specific mutation responsible for the disorder, and the cost of the test in India is typically around INR 20,000.

If you suspect that you or a loved one may have DNMT1 gene cerebellar ataxia with deafness and narcolepsy, it is important to seek medical advice and genetic counseling.