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TMEM70 Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 2 Genetic Test Cost

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

-21%

The TMEM70 gene plays a critical role in the proper function of mitochondrial complex V, also known as ATP synthase, which is essential for energy production within cells. Mutations in the TMEM70 gene can lead to a rare disorder known as mitochondrial complex V ATP synthase deficiency nuclear type 2. This condition is characterized by a wide range of symptoms, including metabolic acidosis, hypotonia, and developmental delay, due to the inefficient production of ATP, the primary energy carrier in cells.

To diagnose this condition, genetic testing is crucial. DNA Labs UAE offers a specific test targeting the TMEM70 gene to identify mutations that may lead to mitochondrial complex V ATP synthase deficiency nuclear type 2. The test is a comprehensive analysis of the TMEM70 gene to detect any genetic abnormalities that could impair the function of the ATP synthase complex.

The cost of the test is 4400 AED. This investment covers the process of collecting a DNA sample, usually through a blood draw or cheek swab, and the subsequent laboratory analysis to identify any mutations in the TMEM70 gene. The results from this test can provide essential information for the diagnosis, and potentially the management, of the condition. It is a crucial step for families seeking answers to unexplained symptoms related to energy metabolism disorders.

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TMEM70 Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 2 Genetic Test

Components: TMEM70 Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 2 Genetic Test

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 TMEM70 Gene Mitochondrial Complex V (ATP synthase) deficiency, nuclear type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM70 Gene Mitochondrial Complex V (ATP synthase) deficiency, nuclear type 2.

TMEM70 gene mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 is a genetic disorder that affects the function of ATP synthase, an enzyme complex involved in energy production within mitochondria. This disorder is caused by mutations in the TMEM70 gene, which is located in the nucleus of cells.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of TMEM70 gene mitochondrial complex V deficiency, NGS genetic testing can identify mutations in the TMEM70 gene that may be responsible for the disorder.

NGS genetic testing is a powerful tool for diagnosing genetic disorders, as it can detect a wide range of genetic mutations in a relatively short period of time. This type of testing can help healthcare professionals provide an accurate diagnosis, determine the severity of the condition, and develop an appropriate treatment plan.

It is important to note that NGS genetic testing may not be available in all healthcare settings and may require specialized laboratories and expertise. Additionally, the specific genes analyzed in NGS panels can vary depending on the laboratory and the specific disorder being tested for. Therefore, it is recommended to consult with a healthcare professional or genetic counselor to determine the most appropriate testing options for a specific individual.

Test Name TMEM70 Gene Mitochondrial complex V ATP synthase deficiency nuclear type 2 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 TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Test Details

TMEM70 gene mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 is a genetic disorder that affects the function of ATP synthase, an enzyme complex involved in energy production within mitochondria. This disorder is caused by mutations in the TMEM70 gene, which is located in the nucleus of cells.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of TMEM70 gene mitochondrial complex V deficiency, NGS genetic testing can identify mutations in the TMEM70 gene that may be responsible for the disorder.

NGS genetic testing is a powerful tool for diagnosing genetic disorders, as it can detect a wide range of genetic mutations in a relatively short period of time. This type of testing can help healthcare professionals provide an accurate diagnosis, determine the severity of the condition, and develop an appropriate treatment plan.

It is important to note that NGS genetic testing may not be available in all healthcare settings and may require specialized laboratories and expertise. Additionally, the specific genes analyzed in NGS panels can vary depending on the laboratory and the specific disorder being tested for. Therefore, it is recommended to consult with a healthcare professional or genetic counselor to determine the most appropriate testing options for a specific individual.