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AIFM1 Gene Combined oxidative phosphorylation deficiency type 6 Genetic Test

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

-21%

The AIFM1 gene plays a crucial role in the process of oxidative phosphorylation, a critical pathway for energy production within cells. Mutations in the AIFM1 gene can lead to Combined Oxidative Phosphorylation Deficiency Type 6 (COXPD6), a rare genetic disorder that affects multiple body systems and can result in a wide range of symptoms, including muscle weakness, neurological deficits, and developmental delays.

To diagnose this condition, genetic testing is available at DNA Labs UAE. The test specifically looks for mutations in the AIFM1 gene that are associated with COXPD6. It is a crucial step for affected individuals and their families to understand the underlying genetic cause of the condition, which can inform treatment decisions and help in assessing the risk for future children.

The cost of the AIFM1 gene test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to detect the presence of mutations in the AIFM1 gene. Given the complexity of genetic testing and the significant information it provides, the test is a valuable tool for individuals and families dealing with the implications of COXPD6.

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AIFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 6 Genetic Test

Components

  • Test Name: AIFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 6 Genetic Test
  • Price: 4400.0 AED
  • Sample Condition: Blood
  • 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 AIFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 6.

Test Details

The AIFM1 gene is associated with a condition called Combined Oxidative Phosphorylation Deficiency Type 6 (COXPD6). This condition is characterized by a deficiency in the energy-producing process called oxidative phosphorylation, which leads to a variety of symptoms including muscle weakness, developmental delay, and neurological problems.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of genes. In the case of COXPD6, NGS genetic testing can be used to identify mutations or variations in the AIFM1 gene that may be responsible for the condition. NGS genetic testing involves obtaining a DNA sample from the individual, typically through a blood sample or saliva sample. The DNA is then sequenced using advanced sequencing technologies to identify any changes in the AIFM1 gene sequence.

By identifying specific mutations or variations in the AIFM1 gene, NGS genetic testing can help confirm a diagnosis of COXPD6 and provide important information for treatment and management of the condition. It can also be used for carrier testing, prenatal testing, and family planning purposes.

It’s important to note that NGS genetic testing may not be available in all healthcare settings and may require a referral to a specialized genetics clinic or laboratory. Additionally, the interpretation of NGS test results should be done by a qualified healthcare professional or genetic counselor who can provide appropriate counseling and guidance based on the individual’s specific situation.

Test Name AIFM1 Gene Combined oxidative phosphorylation deficiency type 6 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood
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 AIFM1 Gene Combined oxidative phosphorylation deficiency type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 6
Test Details

The AIFM1 gene is associated with a condition called Combined Oxidative Phosphorylation Deficiency Type 6 (COXPD6). This condition is characterized by a deficiency in the energy-producing process called oxidative phosphorylation, which leads to a variety of symptoms including muscle weakness, developmental delay, and neurological problems.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of genes. In the case of COXPD6, NGS genetic testing can be used to identify mutations or variations in the AIFM1 gene that may be responsible for the condition.

NGS genetic testing involves obtaining a DNA sample from the individual, typically through a blood sample or saliva sample. The DNA is then sequenced using advanced sequencing technologies to identify any changes in the AIFM1 gene sequence.

By identifying specific mutations or variations in the AIFM1 gene, NGS genetic testing can help confirm a diagnosis of COXPD6 and provide important information for treatment and management of the condition. It can also be used for carrier testing, prenatal testing, and family planning purposes.

It’s important to note that NGS genetic testing may not be available in all healthcare settings and may require a referral to a specialized genetics clinic or laboratory. Additionally, the interpretation of NGS test results should be done by a qualified healthcare professional or genetic counselor who can provide appropriate counseling and guidance based on the individual’s specific situation.

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