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PFKM Gene Glycogen storage disease type 7 Genetic Test Cost

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

-21%

The PFKM gene is associated with glycogen storage disease type 7 (GSD7), also known as Tarui disease. This condition is a rare metabolic disorder characterized by a deficiency of the muscle isoform of the enzyme phosphofructokinase (PFK), which is crucial for the glycolytic pathway. This deficiency leads to issues with glycogen metabolism, causing symptoms such as muscle weakness, cramps, and exercise intolerance, along with other potential complications.

To diagnose this condition, a genetic test targeting the PFKM gene can be conducted. This test is designed to identify mutations in the PFKM gene that are responsible for GSD7. Early diagnosis through genetic testing is vital for managing symptoms, preventing complications, and providing genetic counseling.

In the United Arab Emirates, DNA Labs UAE offers this specific genetic test for GSD7. The cost of the test is 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology to provide accurate and reliable genetic testing services. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory to detect any mutations in the PFKM gene.

By opting for this test at DNA Labs UAE, individuals who are experiencing symptoms of GSD7 or have a family history of the condition can gain valuable insights into their genetic makeup, enabling them to make informed decisions about their health and lifestyle.

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PFKM Gene Glycogen Storage Disease Type 7 Genetic Test

Components: PFKM Gene Glycogen storage disease type 7 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: Metabolic Disorders

Doctor: General Physician

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for PFKM Gene Glycogen storage disease type 7 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 7.

Test Details

The PFKM gene is associated with Glycogen Storage Disease Type 7 (GSD7), also known as Tarui disease. GSD7 is a rare genetic disorder that affects the metabolism of glycogen, a form of stored glucose in the body.

NGS stands for Next-Generation Sequencing, which is a high-throughput DNA sequencing technology used to analyze multiple genes simultaneously. In the context of genetic testing for GSD7, NGS can be used to identify any mutations or variations in the PFKM gene that may be responsible for the disease.

The NGS genetic test for GSD7 involves collecting a sample of DNA, typically through a blood sample or a buccal swab, and sequencing the PFKM gene using NGS technology. The test aims to identify any genetic mutations or variants that may be present in the PFKM gene and causing GSD7.

By identifying the specific genetic mutations associated with GSD7, NGS genetic testing can help confirm a diagnosis, provide information about the severity of the disease, and inform treatment options and management strategies. It can also be used for carrier testing, prenatal testing, and genetic counseling for individuals and families at risk of GSD7.

Test Name PFKM Gene Glycogen storage disease type 7 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 PFKM Gene Glycogen storage disease type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 7
Test Details

The PFKM gene is associated with Glycogen Storage Disease Type 7 (GSD7), also known as Tarui disease. GSD7 is a rare genetic disorder that affects the metabolism of glycogen, a form of stored glucose in the body.

NGS stands for Next-Generation Sequencing, which is a high-throughput DNA sequencing technology used to analyze multiple genes simultaneously. In the context of genetic testing for GSD7, NGS can be used to identify any mutations or variations in the PFKM gene that may be responsible for the disease.

The NGS genetic test for GSD7 involves collecting a sample of DNA, typically through a blood sample or a buccal swab, and sequencing the PFKM gene using NGS technology. The test aims to identify any genetic mutations or variants that may be present in the PFKM gene and causing GSD7.

By identifying the specific genetic mutations associated with GSD7, NGS genetic testing can help confirm a diagnosis, provide information about the severity of the disease, and inform treatment options and management strategies. It can also be used for carrier testing, prenatal testing, and genetic counseling for individuals and families at risk of GSD7.

SKU: TEST-2368 Category:

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