HSD17B4 Gene Perrault Syndrome Genetic Test
At DNA Labs UAE, we offer the HSD17B4 Gene Perrault Syndrome Genetic Test at a cost of AED 4400.0. This test is designed to identify mutations or changes in the HSD17B4 gene that may be responsible for Perrault syndrome.
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: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
Pre Test Information
Prior to undergoing the HSD17B4 Gene Perrault Syndrome Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by Perrault syndrome.
Test Details
The HSD17B4 gene is associated with Perrault syndrome, a rare genetic disorder characterized by hearing loss in both males and females, as well as ovarian dysfunction in females. Mutations in the HSD17B4 gene lead to the production of an enzyme called D-bifunctional protein (DBP).
Our Next-Generation Sequencing (NGS) technology allows for the simultaneous analysis of multiple genes, making it a valuable tool for diagnosing genetic disorders. The NGS test for the HSD17B4 gene involves obtaining a DNA sample, typically through a blood sample or saliva swab. The DNA is then sequenced using NGS technology to identify any variations or mutations in the HSD17B4 gene.
By performing this test, we can confirm a diagnosis of Perrault syndrome and provide information about the specific genetic changes causing the disorder. It is important to note that genetic testing for Perrault syndrome should be conducted by a qualified healthcare professional or genetic counselor who can interpret the results and offer appropriate counseling and support.
Test Name | HSD17B4 Gene Perrault syndrome 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 HSD17B4 Gene Perrault syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B4 Gene Perrault syndrome |
Test Details |
The HSD17B4 gene is associated with Perrault syndrome, which is a rare genetic disorder characterized by hearing loss in both males and females, as well as ovarian dysfunction in females. Perrault syndrome is caused by mutations in the HSD17B4 gene, which provides instructions for making an enzyme called D-bifunctional protein (DBP). A Next-Generation Sequencing (NGS) genetic test for the HSD17B4 gene can be used to identify mutations or changes in the gene that may be responsible for Perrault syndrome. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes, making it a useful tool for diagnosing genetic disorders. The NGS test for the HSD17B4 gene involves obtaining a DNA sample, typically through a blood sample or saliva swab. The DNA is then sequenced using NGS technology to identify any variations or mutations in the HSD17B4 gene. These results can help confirm a diagnosis of Perrault syndrome and provide information about the specific genetic changes that are causing the disorder. It is important to note that genetic testing for Perrault syndrome should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. |