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ATPAF2 Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 1 Genetic Test Cost

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

-21%

The ATPAF2 gene plays a crucial role in the normal function and assembly of mitochondrial complex V, also known as ATP synthase. This enzyme complex is essential for ATP production, which is the primary energy currency in cells. Deficiencies in this complex can lead to a range of mitochondrial disorders, characterized by a wide spectrum of symptoms due to the fundamental role of ATP in cellular processes.

Mitochondrial complex V ATP synthase deficiency nuclear type 1 is a genetic condition caused by mutations in the ATPAF2 gene. This disorder can manifest in various clinical presentations, including neurological and muscular impairments, highlighting the importance of accurate diagnosis.

The genetic test for ATPAF2 gene mitochondrial complex V ATP synthase deficiency nuclear type 1 is a sophisticated diagnostic tool aimed at identifying mutations in the ATPAF2 gene. Performed at DNA Labs UAE, this test involves analyzing the patient’s DNA to detect abnormalities in the ATPAF2 gene that may lead to the disease. The process helps in confirming the diagnosis, which is crucial for managing the condition effectively and providing appropriate genetic counseling.

The cost of the ATPAF2 gene mitochondrial complex V ATP synthase deficiency nuclear type 1 genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to detect the genetic mutations associated with the condition, offering invaluable information for affected individuals and their families regarding the management and potential treatment options for this complex disorder.

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ATPAF2 Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 1 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 ATPAF2 Gene Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATPAF2 Gene Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1.

Test Details

ATPAF2 gene mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 is a genetic disorder characterized by a mutation in the ATPAF2 gene. This gene is responsible for encoding a protein involved in the assembly and function of mitochondrial complex V, also known as ATP synthase. ATP synthase is an enzyme complex located in the inner mitochondrial membrane that plays a crucial role in the production of adenosine triphosphate (ATP), the primary energy source for cellular processes. Mutations in the ATPAF2 gene can disrupt the normal functioning of ATP synthase, leading to impaired ATP production.

NGS (Next-Generation Sequencing) Genetic Testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations associated with a particular condition. In the case of ATPAF2 gene mitochondrial complex V deficiency, NGS genetic testing can help identify the specific mutation in the ATPAF2 gene responsible for the disorder.

The genetic test involves obtaining a DNA sample from the patient, usually through a blood sample or cheek swab. The DNA is then sequenced using next-generation sequencing technology to identify any variations or mutations in the ATPAF2 gene. The results of the test can provide a definitive diagnosis of ATPAF2 gene mitochondrial complex V deficiency and can help guide treatment and management options for affected individuals.

It is important to note that genetic testing should be conducted and interpreted by healthcare professionals with expertise in genetics, as the results can have significant implications for individuals and their families. Genetic counseling is often recommended to help individuals understand the results and make informed decisions about their healthcare.

Test Name ATPAF2 Gene Mitochondrial complex V ATP synthase deficiency nuclear type 1 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 ATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Test Details

ATPAF2 gene mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 is a genetic disorder characterized by a mutation in the ATPAF2 gene, which is responsible for encoding a protein involved in the assembly and function of mitochondrial complex V, also known as ATP synthase.

ATP synthase is an enzyme complex located in the inner mitochondrial membrane that plays a crucial role in the production of adenosine triphosphate (ATP), the primary energy source for cellular processes. Mutations in the ATPAF2 gene can disrupt the normal functioning of ATP synthase, leading to impaired ATP production.

NGS (Next-Generation Sequencing) Genetic Testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations associated with a particular condition. In the case of ATPAF2 gene mitochondrial complex V deficiency, NGS genetic testing can help identify the specific mutation in the ATPAF2 gene responsible for the disorder.

The genetic test involves obtaining a DNA sample from the patient, usually through a blood sample or cheek swab. The DNA is then sequenced using next-generation sequencing technology to identify any variations or mutations in the ATPAF2 gene. The results of the test can provide a definitive diagnosis of ATPAF2 gene mitochondrial complex V deficiency and can help guide treatment and management options for affected individuals.

It is important to note that genetic testing should be conducted and interpreted by healthcare professionals with expertise in genetics, as the results can have significant implications for individuals and their families. Genetic counseling is often recommended to help individuals understand the results and make informed decisions about their healthcare.

SKU: TEST-1712 Category:

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