PRKAG2 Gene Cardiomyopathy Familial Hypertrophic Type 6 Genetic Test
Test Name: PRKAG2 Gene Cardiomyopathy Familial Hypertrophic Type 6 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Cardiovascular Pneumology Disorders
Doctor: Cardiologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for PRKAG2 Gene Cardiomyopathy, familial hypertrophic type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRKAG2 Gene Cardiomyopathy, familial hypertrophic type 6 NGS Genetic DNA Test gene PRKAG2
Test Details
PRKAG2 gene cardiomyopathy, also known as familial hypertrophic cardiomyopathy type 6, is a genetic disorder that affects the heart muscle. It is caused by mutations in the PRKAG2 gene, which provides instructions for making a protein called AMP-activated protein kinase (AMPK). AMPK is an enzyme that plays a crucial role in regulating energy production and metabolism in cells, including heart muscle cells.
Mutations in the PRKAG2 gene disrupt the normal functioning of AMPK, leading to the development of cardiomyopathy. Cardiomyopathy is a condition characterized by the thickening (hypertrophy) of the heart muscle, which can impair the heart’s ability to pump blood effectively.
Symptoms of PRKAG2 gene cardiomyopathy may include shortness of breath, chest pain, fatigue, and an irregular heartbeat.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of genes and identify any genetic mutations or variations. In the case of PRKAG2 gene cardiomyopathy, NGS genetic testing can detect mutations in the PRKAG2 gene to confirm a diagnosis.
NGS genetic testing is typically performed using a blood sample or a saliva sample. The DNA from the sample is extracted and sequenced, and then the sequence data is analyzed to identify any mutations or variations in the PRKAG2 gene.
The results of the NGS genetic test can help healthcare providers confirm a diagnosis of PRKAG2 gene cardiomyopathy and provide information about the specific genetic mutation involved. This information can be useful for guiding treatment decisions, assessing the risk of complications, and providing genetic counseling to affected individuals and their families.
It is important to note that PRKAG2 gene cardiomyopathy is a rare genetic disorder, and genetic testing should be conducted under the guidance of a healthcare professional with expertise in genetics. Additionally, genetic testing may not be necessary or appropriate for everyone with cardiomyopathy, and other diagnostic tests and evaluations may also be required.
| Test Name | PRKAG2 Gene Cardiomyopathy familial hypertrophic type 6 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 | Cardiovascular Pneumology Disorders |
| Doctor | Cardiologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PRKAG2 Gene Cardiomyopathy, familial hypertrophic type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRKAG2 Gene Cardiomyopathy, familial hypertrophic type 6 NGS Genetic DNA Test gene PRKAG2 |
| Test Details |
PRKAG2 gene cardiomyopathy, also known as familial hypertrophic cardiomyopathy type 6, is a genetic disorder that affects the heart muscle. It is caused by mutations in the PRKAG2 gene, which provides instructions for making a protein called AMP-activated protein kinase (AMPK). AMPK is an enzyme that plays a crucial role in regulating energy production and metabolism in cells, including heart muscle cells. Mutations in the PRKAG2 gene disrupt the normal functioning of AMPK, leading to the development of cardiomyopathy. Cardiomyopathy is a condition characterized by the thickening (hypertrophy) of the heart muscle, which can impair the heart’s ability to pump blood effectively. Symptoms of PRKAG2 gene cardiomyopathy may include shortness of breath, chest pain, fatigue, and an irregular heartbeat. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of genes and identify any genetic mutations or variations. In the case of PRKAG2 gene cardiomyopathy, NGS genetic testing can detect mutations in the PRKAG2 gene to confirm a diagnosis. NGS genetic testing is typically performed using a blood sample or a saliva sample. The DNA from the sample is extracted and sequenced, and then the sequence data is analyzed to identify any mutations or variations in the PRKAG2 gene. The results of the NGS genetic test can help healthcare providers confirm a diagnosis of PRKAG2 gene cardiomyopathy and provide information about the specific genetic mutation involved. This information can be useful for guiding treatment decisions, assessing the risk of complications, and providing genetic counseling to affected individuals and their families. It is important to note that PRKAG2 gene cardiomyopathy is a rare genetic disorder, and genetic testing should be conducted under the guidance of a healthcare professional with expertise in genetics. Additionally, genetic testing may not be necessary or appropriate for everyone with cardiomyopathy, and other diagnostic tests and evaluations may also be required. |
