PSAP Gene Metachromatic Leukodystrophy Due to Saposin B Deficiency Genetic Test
Genetic testing plays a crucial role in the diagnosis and management of various genetic disorders. One such disorder is Metachromatic Leukodystrophy (MLD) caused by a deficiency in saposin B, which is encoded by the PSAP gene. DNA Labs UAE offers a comprehensive genetic test for this condition, providing accurate and reliable results.
Test Details
Metachromatic leukodystrophy (MLD) is a rare genetic disorder that affects the nervous system. It is characterized by a deficiency in the enzyme arylsulfatase A (ASA), leading to the accumulation of sulfatide in the brain and other tissues. The PSAP gene, also known as the prosaposin gene, is responsible for producing a precursor protein called prosaposin. Prosaposin is further processed into saposins (A, B, C, and D), which are essential for the breakdown and recycling of various substances in cells, including sulfatide.
In some cases of MLD, the deficiency of ASA is caused by mutations in the PSAP gene that result in a deficiency of saposin B. Saposin B is specifically involved in the breakdown of sulfatide. Without sufficient saposin B, sulfatide accumulates and leads to the symptoms of MLD.
NGS Technology
Our genetic test for MLD due to saposin B deficiency utilizes Next-Generation Sequencing (NGS) technology. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of the PSAP gene and other relevant genes associated with neurological disorders.
Test Components and Price
The PSAP Gene Metachromatic Leukodystrophy due to Saposin B Deficiency Genetic Test is priced at 4400.0 AED. The test can be performed using blood or extracted DNA, or even a single drop of blood on an FTA card. The test results will be delivered within 3 to 4 weeks.
Doctor and Test Department
This genetic test is conducted under the supervision of a neurologist. The test is performed in the Genetics department of DNA Labs UAE, ensuring accurate and reliable results.
Pre Test Information
Before undergoing the PSAP Gene Metachromatic Leukodystrophy due to Saposin B Deficiency Genetic Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by MLD due to saposin B deficiency. This information helps in assessing the risk of the condition in other family members and aids in making informed decisions regarding family planning.
Benefits and Importance of the Test
NGS genetic testing for MLD due to saposin B deficiency offers several benefits. It provides a definitive diagnosis for individuals with suspected or confirmed symptoms of the disorder. This information is crucial for genetic counseling and family planning. It also enables healthcare professionals to explore potential treatment options, such as gene therapy, in the future.
Don’t wait any longer. Get the PSAP Gene Metachromatic Leukodystrophy due to Saposin B Deficiency Genetic Test at DNA Labs UAE and take a step towards understanding and managing this rare genetic disorder.
| Test Name | PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency |
| Test Details |
Metachromatic leukodystrophy (MLD) is a rare genetic disorder that affects the nervous system. It is caused by a deficiency in the enzyme called arylsulfatase A (ASA), which leads to the accumulation of a fatty substance called sulfatide in the brain and other tissues. The PSAP gene, also known as the prosaposin gene, provides instructions for making a protein called prosaposin. Prosaposin is a precursor protein that is processed into four smaller proteins known as saposins (A, B, C, and D). These saposins play important roles in the breakdown and recycling of various substances in cells, including sulfatide. In some cases of MLD, the deficiency of ASA is caused by mutations in the PSAP gene that result in a deficiency of saposin B. Saposin B is specifically involved in the breakdown of sulfatide. Without sufficient saposin B, sulfatide accumulates and causes the symptoms of MLD. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses high-throughput sequencing technology to analyze multiple genes simultaneously. In the case of MLD due to saposin B deficiency, NGS genetic testing can be used to identify mutations in the PSAP gene that are responsible for the condition. By identifying the specific genetic mutations causing MLD due to saposin B deficiency, NGS genetic testing can provide a definitive diagnosis for individuals with suspected or confirmed symptoms of the disorder. This information is important for genetic counseling, family planning, and potentially for future treatment options such as gene therapy. |
