CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency Genetic Test
Test Name: CBS Gene Homocystinuria due to cystathionine beta-synthase 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: Vascular Diseases
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic DNA Test gene CBS
Test Details: CBS gene homocystinuria due to cystathionine beta-synthase deficiency is a genetic disorder characterized by the deficiency of the enzyme cystathionine beta-synthase (CBS). This enzyme is responsible for the conversion of the amino acid methionine to cysteine. A NGS (Next-Generation Sequencing) genetic test can be used to identify mutations or variations in the CBS gene that may be responsible for the development of homocystinuria. NGS is a high-throughput sequencing technology that allows for the simultaneous sequencing of multiple genes or even the entire genome. The genetic test involves obtaining a DNA sample from the individual, usually through a blood sample or saliva swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the CBS gene. The results of the test can help diagnose homocystinuria and determine the specific genetic cause of the disorder. Early diagnosis through genetic testing is crucial for the management and treatment of homocystinuria. Treatment typically involves a strict low-methionine diet, along with vitamin B6 supplementation and other therapies to manage the elevated levels of homocysteine in the body. Genetic testing can also help identify carriers of the CBS gene mutation, allowing for genetic counseling and family planning. It’s important to consult with a healthcare professional or genetic counselor to determine if a NGS genetic test for homocystinuria is appropriate and to understand the potential implications of the test results.
| Test Name | CBS Gene Homocystinuria due to cystathionine beta-synthase 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 | Vascular Diseases |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic DNA Test gene CBS |
| Test Details | CBS gene homocystinuria due to cystathionine beta-synthase deficiency is a genetic disorder characterized by the deficiency of the enzyme cystathionine beta-synthase (CBS). This enzyme is responsible for the conversion of the amino acid methionine to cysteine. A NGS (Next-Generation Sequencing) genetic test can be used to identify mutations or variations in the CBS gene that may be responsible for the development of homocystinuria. NGS is a high-throughput sequencing technology that allows for the simultaneous sequencing of multiple genes or even the entire genome. The genetic test involves obtaining a DNA sample from the individual, usually through a blood sample or saliva swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the CBS gene. The results of the test can help diagnose homocystinuria and determine the specific genetic cause of the disorder. Early diagnosis through genetic testing is crucial for the management and treatment of homocystinuria. Treatment typically involves a strict low-methionine diet, along with vitamin B6 supplementation and other therapies to manage the elevated levels of homocysteine in the body. Genetic testing can also help identify carriers of the CBS gene mutation, allowing for genetic counseling and family planning. It’s important to consult with a healthcare professional or genetic counselor to determine if a NGS genetic test for homocystinuria is appropriate and to understand the potential implications of the test results. |
