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TUFM Gene Combined oxidative phosphorylation deficiency type 4 Genetic Test Cost

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

-21%

The TUFM gene plays a crucial role in the mitochondrial translation process, essential for the production of proteins that are critical components of the mitochondrial respiratory chain. Mutations in the TUFM gene can lead to Combined Oxidative Phosphorylation Deficiency Type 4 (COXPD4), a rare genetic disorder that affects multiple systems in the body, leading to severe clinical manifestations including lactic acidosis, developmental delay, and possible heart and liver involvement.

To diagnose this condition, genetic testing for the TUFM gene mutation is crucial. DNA Labs UAE offers a specialized test designed to identify mutations in the TUFM gene associated with COXPD4. This test is a vital tool for clinicians in the diagnosis and management of patients suspected of having this rare disorder. The cost of the test is 4400 AED, reflecting the comprehensive analysis and the specialized technology employed to detect these mutations accurately.

By confirming the presence of a TUFM gene mutation, this test helps in guiding treatment decisions, provides information on the prognosis, and assists in genetic counseling for affected families. It is a critical step towards personalized medicine for patients with COXPD4, enabling targeted interventions and support to improve their quality of life.

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TUFM Gene Combined oxidative phosphorylation deficiency type 4 Genetic Test

Test Name: TUFM Gene Combined oxidative phosphorylation deficiency type 4 Genetic Test

Components: NGS Technology

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Test Type: Metabolic Disorders

Doctor: General Physician

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for TUFM Gene Combined oxidative phosphorylation deficiency type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 4.

Test Details: The TUFM gene is responsible for encoding a protein called mitochondrial Tu translation elongation factor, which plays a role in protein synthesis within the mitochondria. Combined oxidative phosphorylation deficiency type 4 (COXPD4) is a rare genetic disorder characterized by a deficiency in the function of the mitochondria, specifically in oxidative phosphorylation. NGS (Next-Generation Sequencing) Genetic Test refers to a type of genetic testing that utilizes advanced sequencing technologies to analyze multiple genes simultaneously. In the context of COXPD4, an NGS genetic test would involve sequencing the TUFM gene to identify any genetic variations or mutations that may be responsible for the disorder. This type of genetic testing can help in diagnosing COXPD4 and provide information about the specific genetic cause of the condition. It can also be used for carrier testing and prenatal testing in families with a history of COXPD4. Additionally, NGS genetic testing can aid in genetic counseling and guide treatment options for affected individuals.

Test Name TUFM Gene Combined oxidative phosphorylation deficiency type 4 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 Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for TUFM Gene Combined oxidative phosphorylation deficiency type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 4
Test Details

The TUFM gene is responsible for encoding a protein called mitochondrial Tu translation elongation factor, which plays a role in protein synthesis within the mitochondria. Combined oxidative phosphorylation deficiency type 4 (COXPD4) is a rare genetic disorder characterized by a deficiency in the function of the mitochondria, specifically in oxidative phosphorylation.

NGS (Next-Generation Sequencing) Genetic Test refers to a type of genetic testing that utilizes advanced sequencing technologies to analyze multiple genes simultaneously. In the context of COXPD4, an NGS genetic test would involve sequencing the TUFM gene to identify any genetic variations or mutations that may be responsible for the disorder.

This type of genetic testing can help in diagnosing COXPD4 and provide information about the specific genetic cause of the condition. It can also be used for carrier testing and prenatal testing in families with a history of COXPD4. Additionally, NGS genetic testing can aid in genetic counseling and guide treatment options for affected individuals.

SKU: TEST-2253