DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy Autosomal Recessive Genetic Test
Test Name: DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy Autosomal Recessive Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test 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.
Test Details
The DNMT1 gene is associated with a rare genetic disorder called cerebellar ataxia with deafness and narcolepsy, autosomal recessive (CADASIL). This disorder is characterized by progressive problems with movement and coordination (ataxia), hearing loss (deafness), and excessive daytime sleepiness (narcolepsy).
The DNMT1 gene provides instructions for making an enzyme called DNA methyltransferase 1, which plays a role in regulating gene expression by adding methyl groups to DNA. Mutations in the DNMT1 gene can disrupt this process, leading to abnormal gene expression and the symptoms associated with CADASIL.
NGS (next-generation sequencing) genetic testing can be used to analyze the DNMT1 gene for mutations and help diagnose CADASIL. This type of testing is a highly sensitive and specific method for detecting genetic changes associated with inherited disorders. It involves sequencing large amounts of DNA quickly and accurately, allowing for the detection of even rare genetic variants.
| Test Name | DNMT1 Gene Cerebellar ataxia with deafness and narcolepsy autosomal recessive Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
The DNMT1 gene is associated with a rare genetic disorder called cerebellar ataxia with deafness and narcolepsy, autosomal recessive (CADASIL). This disorder is characterized by progressive problems with movement and coordination (ataxia), hearing loss (deafness), and excessive daytime sleepiness (narcolepsy). The DNMT1 gene provides instructions for making an enzyme called DNA methyltransferase 1, which plays a role in regulating gene expression by adding methyl groups to DNA. Mutations in the DNMT1 gene can disrupt this process, leading to abnormal gene expression and the symptoms associated with CADASIL. NGS (next-generation sequencing) genetic testing can be used to analyze the DNMT1 gene for mutations and help diagnose CADASIL. This type of testing is a highly sensitive and specific method for detecting genetic changes associated with inherited disorders. It involves sequencing large amounts of DNA quickly and accurately, allowing for the detection of even rare genetic variants. |
