ADSL Gene Adenylosuccinase deficiency Genetic Test
Components: ADSL Gene Adenylosuccinase deficiency Genetic Test
Price: 4400.0 AED
Sample Condition: Blood
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 ADSL Gene Adenylosuccinase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Adenylosuccinase deficiency
Test Details
ADSL (Adenylosuccinase) deficiency is a rare genetic disorder that affects the metabolism of purines, which are important building blocks of DNA and RNA. This disorder is caused by mutations in the ADSL gene, which is responsible for producing the adenylosuccinase enzyme.
NGS (Next-Generation Sequencing) is a type of genetic testing that allows for the rapid and efficient sequencing of large amounts of DNA. It can be used to identify mutations in the ADSL gene associated with adenylosuccinase deficiency.
The ADSL NGS genetic test involves obtaining a sample of DNA, usually through a blood or saliva sample, from the individual suspected of having adenylosuccinase deficiency. The DNA is then sequenced using NGS technology to identify any mutations or variations in the ADSL gene.
This genetic test can help confirm a diagnosis of adenylosuccinase deficiency and provide information about the specific mutations present in the ADSL gene. It can also be used for carrier testing in individuals with a family history of the disorder.
The results of the ADSL NGS genetic test can help guide treatment decisions and provide valuable information for genetic counseling and family planning. It is important to consult with a healthcare professional or genetic counselor to understand the implications of the test results and to discuss appropriate management strategies.
| Test Name | ADSL Gene Adenylosuccinase deficiency Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood |
| 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 ADSL Gene Adenylosuccinase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Adenylosuccinase deficiency |
| Test Details | ADSL (Adenylosuccinase) deficiency is a rare genetic disorder that affects the metabolism of purines, which are important building blocks of DNA and RNA. This disorder is caused by mutations in the ADSL gene, which is responsible for producing the adenylosuccinase enzyme. NGS (Next-Generation Sequencing) is a type of genetic testing that allows for the rapid and efficient sequencing of large amounts of DNA. It can be used to identify mutations in the ADSL gene associated with adenylosuccinase deficiency. The ADSL NGS genetic test involves obtaining a sample of DNA, usually through a blood or saliva sample, from the individual suspected of having adenylosuccinase deficiency. The DNA is then sequenced using NGS technology to identify any mutations or variations in the ADSL gene. This genetic test can help confirm a diagnosis of adenylosuccinase deficiency and provide information about the specific mutations present in the ADSL gene. It can also be used for carrier testing in individuals with a family history of the disorder. The results of the ADSL NGS genetic test can help guide treatment decisions and provide valuable information for genetic counseling and family planning. It is important to consult with a healthcare professional or genetic counselor to understand the implications of the test results and to discuss appropriate management strategies. |
