BCAT2 Gene Branched-chain aminotransferase 2 deficiency Genetic Test
Test Name: BCAT2 Gene Branched-chain aminotransferase 2 deficiency 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: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for BCAT2 Gene Branched-chain aminotransferase 2 deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Branched-chain aminotransferase 2 deficiency.
Test Details: BCAT2 gene branched-chain aminotransferase 2 deficiency is a rare genetic disorder that affects the metabolism of branched-chain amino acids (BCAAs) in the body. BCAAs are essential amino acids that play a crucial role in protein synthesis and energy production. Deficiency in the BCAT2 gene can lead to the accumulation of BCAAs in the blood and tissues, causing a range of symptoms and health problems. These may include developmental delay, intellectual disability, seizures, poor muscle tone, and problems with coordination and movement.
NGS genetic testing, or next-generation sequencing genetic testing, is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. It can help identify mutations or variations in the BCAT2 gene that may be associated with branched-chain aminotransferase 2 deficiency. NGS genetic testing can provide valuable information about an individual’s genetic makeup and help with the diagnosis of genetic disorders. It can also be used for carrier testing, prenatal testing, and to guide treatment decisions.
If you suspect that you or your child may have branched-chain aminotransferase 2 deficiency, it is important to consult with a healthcare professional or a genetic counselor who can guide you through the testing process and provide appropriate support and guidance.
Test Name | BCAT2 Gene Branched-chain aminotransferase 2 deficiency 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 BCAT2 Gene Branched-chain aminotransferase 2 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Branched-chain aminotransferase 2 deficiency |
Test Details |
BCAT2 gene branched-chain aminotransferase 2 deficiency is a rare genetic disorder that affects the metabolism of branched-chain amino acids (BCAAs) in the body. BCAAs are essential amino acids that play a crucial role in protein synthesis and energy production. Deficiency in the BCAT2 gene can lead to the accumulation of BCAAs in the blood and tissues, causing a range of symptoms and health problems. These may include developmental delay, intellectual disability, seizures, poor muscle tone, and problems with coordination and movement. NGS genetic testing, or next-generation sequencing genetic testing, is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. It can help identify mutations or variations in the BCAT2 gene that may be associated with branched-chain aminotransferase 2 deficiency. NGS genetic testing can provide valuable information about an individual’s genetic makeup and help with the diagnosis of genetic disorders. It can also be used for carrier testing, prenatal testing, and to guide treatment decisions. If you suspect that you or your child may have branched-chain aminotransferase 2 deficiency, it is important to consult with a healthcare professional or a genetic counselor who can guide you through the testing process and provide appropriate support and guidance. |