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ATP1A3 Gene CAPOS Syndrome Genetic Test

4,400 د.إ

-21%

The ATP1A3 gene CAPOS syndrome genetic test is a specialized diagnostic procedure aimed at identifying mutations in the ATP1A3 gene, which are linked to CAPOS syndrome. CAPOS syndrome is a rare genetic disorder characterized by Cerebellar Ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss. This condition is inherited in an autosomal dominant pattern, meaning a mutation in just one of the two copies of the gene can lead to the disorder.

The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in a laboratory to detect the presence of genetic mutations associated with the syndrome. This genetic testing is crucial for accurate diagnosis, guiding treatment options, and providing information on the risk of passing the condition to future generations.

Conducted at DNA Labs UAE, the test is priced at 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experienced professionals to ensure accurate and reliable results. The facility provides a supportive environment for patients and their families, offering comprehensive counseling and support services alongside genetic testing.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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ATP1A3 Gene CAPOS Syndrome Genetic Test

Components

  • 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 ATP1A3 Gene CAPOS Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP1A3 Gene CAPOS Syndrome.

Test Details

The ATP1A3 gene is responsible for encoding a protein called sodium-potassium adenosine triphosphatase alpha-3 subunit, which is essential for maintaining the balance of sodium and potassium ions in cells. Mutations in this gene have been associated with a rare genetic disorder called CAPOS Syndrome, which stands for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural hearing loss.

NGS (Next Generation Sequencing) genetic testing is a technique used to analyze the DNA sequence of a patient’s genome. It is a powerful tool for identifying mutations in genes like ATP1A3 that are associated with genetic disorders like CAPOS Syndrome. NGS testing can detect a wide range of genetic variations, including single nucleotide polymorphisms (SNPs), insertions, deletions, and structural variants.

Patients with suspected CAPOS Syndrome may undergo NGS genetic testing to identify mutations in the ATP1A3 gene. This can help confirm a diagnosis and inform treatment decisions. Genetic testing can also be useful for family members of patients with CAPOS Syndrome, as it can identify individuals who may be at risk of developing the disorder.

Test Name ATP1A3 Gene CAPOS syndrome 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 ATP1A3 Gene CAPOS syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP1A3 Gene CAPOS syndrome
Test Details

The ATP1A3 gene is responsible for encoding a protein called sodium-potassium adenosine triphosphatase alpha-3 subunit, which is essential for maintaining the balance of sodium and potassium ions in cells. Mutations in this gene have been associated with a rare genetic disorder called CAPOS syndrome, which stands for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural hearing loss.

NGS (Next Generation Sequencing) genetic testing is a technique used to analyze the DNA sequence of a patient’s genome. It is a powerful tool for identifying mutations in genes like ATP1A3 that are associated with genetic disorders like CAPOS syndrome. NGS testing can detect a wide range of genetic variations, including single nucleotide polymorphisms (SNPs), insertions, deletions, and structural variants.

Patients with suspected CAPOS syndrome may undergo NGS genetic testing to identify mutations in the ATP1A3 gene. This can help confirm a diagnosis and inform treatment decisions. Genetic testing can also be useful for family members of patients with CAPOS syndrome, as it can identify individuals who may be at risk of developing the disorder.