PSAP Gene Krabbe Disease Atypical Genetic Test
At DNA Labs UAE, we offer the PSAP Gene Krabbe disease atypical Genetic Test at a cost of AED 4400.0. This test is designed to identify any pathogenic variants or mutations in the PSAP gene, which is associated with Krabbe disease, a rare lysosomal storage disorder also known as globoid cell leukodystrophy.
Test Details
Krabbe disease is an autosomal recessive disorder characterized by the deficiency of the enzyme galactosylceramidase, leading to the accumulation of toxic substances in the nervous system. Our atypical NGS (Next-Generation Sequencing) genetic testing method utilizes advanced sequencing techniques to analyze multiple genes simultaneously, including the PSAP gene.
Test Components and Price
The PSAP Gene Krabbe disease atypical Genetic Test is priced at AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA Card for analysis.
Report Delivery and Turnaround Time
After the sample is received, the report for the PSAP Gene Krabbe disease atypical Genetic Test will be delivered within 3 to 4 weeks.
Test Type and Department
This test falls under the category of Metabolic Disorders and is conducted in our Genetics department.
Referring Doctor
A General Physician can refer patients for the PSAP Gene Krabbe disease atypical Genetic Test.
Pre-Test Information
Prior to undergoing the PSAP Gene Krabbe disease atypical Genetic Test, it is recommended to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected by Krabbe disease, atypical.
Benefits and Applications
The PSAP Gene Krabbe disease atypical Genetic Test can help diagnose Krabbe disease in individuals displaying clinical symptoms. It can also be used for carrier screening in individuals with a family history of the condition. The test provides valuable information for genetic counseling, family planning, and can potentially guide treatment decisions.
It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness, benefits, and limitations of atypical NGS genetic testing for Krabbe disease in each specific case.
| Test Name | PSAP Gene Krabbe 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 Krabbe disease, atypical NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Krabbe disease, atypical |
| Test Details |
PSAP (prosaposin) gene is associated with a rare lysosomal storage disorder called Krabbe disease, also known as globoid cell leukodystrophy. Krabbe disease is an autosomal recessive disorder characterized by the deficiency of the enzyme galactosylceramidase, which leads to the accumulation of toxic substances in the nervous system. Atypical NGS (Next-Generation Sequencing) genetic testing refers to the use of advanced sequencing techniques to analyze multiple genes simultaneously. In the context of Krabbe disease, atypical NGS genetic testing involves sequencing the PSAP gene to identify any pathogenic variants or mutations that may be responsible for the disease. This type of genetic testing can help diagnose Krabbe disease in individuals with clinical symptoms and can also be used for carrier screening in individuals with a family history of the condition. It can provide valuable information for genetic counseling, family planning, and potentially guide treatment decisions. It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness, benefits, and limitations of atypical NGS genetic testing for Krabbe disease in each specific case. |
