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PDSS2 Gene Coenzyme Q10 Deficiency Type 3 Genetic Test

4,400 د.إ

-21%

The PDSS2 Gene Coenzyme Q10 Deficiency Type 3 Genetic Test is a specialized diagnostic procedure offered at DNA Labs UAE, designed to detect mutations in the PDSS2 gene, which are linked to Coenzyme Q10 Deficiency Type 3. This rare, autosomal recessive disorder disrupts the body’s ability to produce Coenzyme Q10 (CoQ10), an essential molecule for energy production and antioxidant protection in cells. Symptoms of the deficiency can vary but often include neurological and muscular manifestations, such as seizures, muscle weakness, and ataxia.

The test involves analyzing the patient’s DNA to identify any genetic alterations in the PDSS2 gene that may lead to the condition. This is crucial for confirming the diagnosis, understanding the disease’s progression, and guiding treatment options. Early diagnosis and intervention can significantly improve the quality of life for affected individuals, making this test an invaluable tool for those with suspected Coenzyme Q10 Deficiency.

The cost of the PDSS2 Gene Coenzyme Q10 Deficiency Type 3 Genetic Test at DNA Labs UAE is set at 4400 AED. This investment covers the comprehensive analysis required to accurately assess the presence of genetic mutations associated with the condition. By choosing DNA Labs UAE for this testing, patients can expect state-of-the-art facilities, highly qualified geneticists, and reliable results, all contributing to effective disease management and treatment planning.

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PDSS2 Gene Coenzyme Q10 Deficiency Type 3 Genetic Test

At DNA Labs UAE, we offer the PDSS2 Gene Coenzyme Q10 deficiency type 3 Genetic Test, a diagnostic tool that uses Next-Generation Sequencing (NGS) technology to identify mutations in the PDSS2 gene associated with coenzyme Q10 deficiency type 3.

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

Before undergoing the PDSS2 Gene Coenzyme Q10 deficiency type 3 NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with PDSS2 Gene Coenzyme Q10 deficiency type 3.

Test Details

The PDSS2 gene coenzyme Q10 deficiency type 3 NGS genetic test is a diagnostic tool that identifies mutations in the PDSS2 gene using NGS technology. Coenzyme Q10 (CoQ10) is a vital component of the electron transport chain that produces ATP, the energy currency of the cell. Deficiency of CoQ10 can lead to various symptoms such as muscle weakness, seizures, and developmental delays.

The PDSS2 gene encodes an enzyme involved in the biosynthesis of CoQ10. Mutations in this gene can disrupt CoQ10 production, resulting in a deficiency. The PDSS2 gene coenzyme Q10 deficiency type 3 NGS genetic test utilizes NGS technology to sequence multiple genes simultaneously and detect both known and novel mutations.

This test is beneficial for individuals experiencing symptoms of CoQ10 deficiency and carriers of the PDSS2 gene mutation who may pass it on to their offspring. Early diagnosis and treatment of CoQ10 deficiency can significantly improve outcomes and enhance the quality of life for affected individuals.

Test Name PDSS2 Gene Coenzyme Q10 deficiency type 3 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 PDSS2 Gene Coenzyme Q10 deficiency type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PDSS2 Gene Coenzyme Q10 deficiency type 3
Test Details

PDSS2 gene coenzyme Q10 deficiency type 3 NGS genetic test is a diagnostic tool that uses Next-Generation Sequencing (NGS) technology to identify mutations in the PDSS2 gene associated with coenzyme Q10 deficiency type 3. Coenzyme Q10 (CoQ10) is a vital component of the electron transport chain that produces ATP, the energy currency of the cell. CoQ10 deficiency can cause a range of symptoms, including muscle weakness, seizures, and developmental delays.

The PDSS2 gene encodes an enzyme involved in the biosynthesis of CoQ10. Mutations in this gene can disrupt CoQ10 production, leading to a deficiency. The PDSS2 gene coenzyme Q10 deficiency type 3 NGS genetic test identifies mutations in the PDSS2 gene using NGS technology, which can sequence multiple genes simultaneously and detect both known and novel mutations.

The PDSS2 gene coenzyme Q10 deficiency type 3 NGS genetic test is useful for individuals with symptoms of CoQ10 deficiency, as well as for carriers of the PDSS2 gene mutation who may pass it on to their offspring. Early diagnosis and treatment of CoQ10 deficiency can improve outcomes and quality of life for affected individuals.