POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A Genetic Test
Introduction
The POLG gene is responsible for providing instructions for the production of an enzyme called DNA polymerase gamma, which is involved in replicating mitochondrial DNA (mtDNA). Mitochondrial DNA depletion syndrome type 4A (MDDS4A) is a rare genetic disorder caused by mutations in the POLG gene, leading to a decrease in the amount of mtDNA in the body’s cells.
Test Details
The POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A Genetic Test is a high-throughput genetic testing method that utilizes Next-Generation Sequencing (NGS) technology. This test involves sequencing the entire coding region of the POLG gene to identify any mutations or variants that may be present.
Test Components and Price
Test Name: POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A 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
Neurological Disorders
Doctor
Neurologist
Test Department
Genetics
Pre Test Information
Clinical History of Patient who is going for POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A.
Uses of the Test
– Diagnosis of MDDS4A
– Determining carrier status in individuals with a family history of the condition
– Prenatal testing if both parents are known carriers of POLG gene mutations
– Management and treatment of individuals with MDDS4A
– Genetic counseling and guidance for family planning
| Test Name | POLG Gene Mitochondrial DNA depletion syndrome type 4A 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 POLG Gene Mitochondrial DNA depletion syndrome type 4A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLG Gene Mitochondrial DNA depletion syndrome type 4A |
| Test Details |
The POLG gene is responsible for providing instructions for the production of an enzyme called DNA polymerase gamma, which is involved in replicating mitochondrial DNA (mtDNA). Mitochondrial DNA depletion syndrome type 4A (MDDS4A) is a rare genetic disorder caused by mutations in the POLG gene, leading to a decrease in the amount of mtDNA in the body’s cells. NGS (Next-Generation Sequencing) is a high-throughput genetic testing method that can analyze multiple genes simultaneously. A POLG gene NGS genetic test involves sequencing the entire coding region of the POLG gene to identify any mutations or variants that may be present. This test is used to diagnose MDDS4A, as well as to determine carrier status in individuals with a family history of the condition. It can also be used for prenatal testing if both parents are known carriers of POLG gene mutations. By identifying specific mutations in the POLG gene, this test can help in the management and treatment of individuals with MDDS4A, as well as in providing genetic counseling and guidance for family planning. |
