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DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy Autosomal Recessive Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy Autosomal Recessive Genetic Test is a specialized diagnostic examination available at DNA Labs UAE, designed to identify mutations in the DNMT1 gene that are associated with a rare, autosomal recessive disorder. This condition is characterized by a combination of symptoms including cerebellar ataxia, which involves coordination and balance problems due to cerebellum damage; deafness; and narcolepsy, a chronic sleep disorder that causes overwhelming daytime drowsiness and sudden sleep attacks. The test is crucial for individuals who exhibit these symptoms or have a family history of the disorder, as it aids in the accurate diagnosis and management of the condition. The cost of the test is 4400 AED, reflecting the comprehensive analysis and expertise required to interpret the genetic data. Conducted at DNA Labs UAE, a leading facility in genetic testing, this test offers hope for affected individuals and their families by providing essential information for treatment planning and genetic counseling.

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  • This test is not intended for medical diagnosis or treatment
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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.