PSAP Gene Gaucher Disease Atypical Genetic Test
Test Details
PSAP (prosaposin) gene mutations can cause Gaucher disease, a rare genetic disorder characterized by the buildup of a fatty substance called glucocerebroside in certain organs and tissues. Gaucher disease can be classified into three types: type 1 (non-neuropathic), type 2 (acute neuropathic), and type 3 (chronic neuropathic).
NGS (next-generation sequencing) is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes or the entire genome. Atypical NGS genetic testing refers to the use of NGS technology to identify rare or unusual mutations in specific genes, such as the PSAP gene in Gaucher disease.
This type of genetic testing can help diagnose Gaucher disease by identifying specific mutations in the PSAP gene that are known to be associated with the disorder. It can also provide information about the type and severity of the disease, as different mutations can result in different clinical presentations.
Genetic testing for Gaucher disease can be particularly useful in cases where the clinical symptoms are atypical or ambiguous, helping to confirm the diagnosis and guide appropriate treatment options. Additionally, genetic testing can also be used for carrier screening in individuals with a family history of Gaucher disease or for prenatal testing in couples at risk of having a child with the disorder.
It is important to note that genetic testing for Gaucher disease should be performed and interpreted by qualified healthcare professionals or genetic counselors who are familiar with the specific genetic mutations associated with the condition.
Test Name: PSAP Gene Gaucher Disease Atypical 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 PSAP Gene Gaucher disease, atypical NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with Gaucher disease, atypical
For more information or to schedule an appointment for the PSAP Gene Gaucher Disease Atypical Genetic Test, please contact DNA Labs UAE.
| Test Name | PSAP Gene Gaucher disease atypical 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 PSAP Gene Gaucher disease, atypical NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Gaucher disease, atypical |
| Test Details | PSAP (prosaposin) gene mutations can cause Gaucher disease, a rare genetic disorder characterized by the buildup of a fatty substance called glucocerebroside in certain organs and tissues. Gaucher disease can be classified into three types: type 1 (non-neuropathic), type 2 (acute neuropathic), and type 3 (chronic neuropathic). NGS (next-generation sequencing) is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes or the entire genome. Atypical NGS genetic testing refers to the use of NGS technology to identify rare or unusual mutations in specific genes, such as the PSAP gene in Gaucher disease. This type of genetic testing can help diagnose Gaucher disease by identifying specific mutations in the PSAP gene that are known to be associated with the disorder. It can also provide information about the type and severity of the disease, as different mutations can result in different clinical presentations. Genetic testing for Gaucher disease can be particularly useful in cases where the clinical symptoms are atypical or ambiguous, helping to confirm the diagnosis and guide appropriate treatment options. Additionally, genetic testing can also be used for carrier screening in individuals with a family history of Gaucher disease or for prenatal testing in couples at risk of having a child with the disorder. It is important to note that genetic testing for Gaucher disease should be performed and interpreted by qualified healthcare professionals or genetic counselors who are familiar with the specific genetic mutations associated with the condition. |
