HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency Genetic Test
At DNA Labs UAE, we offer the HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency Genetic Test at a cost of AED 4400.0.
Test Details
The HSD17B10 gene encodes for the enzyme 17-beta hydroxysteroid dehydrogenase X (HSD10), which is involved in the metabolism of hormones and neurosteroids. Mutations in the HSD17B10 gene can lead to a deficiency of the HSD10 enzyme, resulting in a condition known as HSD17B10 deficiency.
HSD17B10 deficiency is a rare X-linked genetic disorder that affects males. It is characterized by a wide range of symptoms, including intellectual disability, developmental delay, seizures, muscle weakness, and problems with movement and coordination. Additional features may include abnormal facial features, heart defects, and hearing loss.
Test Components
- Price: AED 4400.0
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Hepatology Nephrology Endocrinology Disorders
- Doctor: General Physician
- Test Department: Genetics
Pre Test Information
Prior to undergoing the HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency NGS Genetic DNA Test, it is important 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 with HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency NGS Genetic DNA Test gene HSD17B10.
Methodology
NGS (Next-Generation Sequencing) genetic testing is used to identify mutations or variations in genes. In the case of HSD17B10 deficiency, NGS genetic testing can identify mutations in the HSD17B10 gene. This aids in confirming a diagnosis of HSD17B10 deficiency in individuals with suspected symptoms or a family history of the condition.
NGS genetic testing involves sequencing the DNA of the individual being tested to identify any changes or variations in the HSD17B10 gene. This can be done using various techniques, such as whole-exome sequencing or targeted gene panel sequencing.
Importance of Genetic Testing
The results of the genetic test can help guide medical management and provide information for genetic counseling. It is crucial to note that genetic testing for HSD17B10 deficiency should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate recommendations and support.
| Test Name | HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency 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 | Hepatology Nephrology Endocrinology Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency NGS Genetic DNA Test gene HSD17B10 |
| Test Details | The HSD17B10 gene encodes for the enzyme 17-beta hydroxysteroid dehydrogenase X (HSD10), which is involved in the metabolism of hormones and neurosteroids. Mutations in the HSD17B10 gene can lead to a deficiency of the HSD10 enzyme, resulting in a condition known as HSD17B10 deficiency. HSD17B10 deficiency is a rare X-linked genetic disorder that affects males. It is characterized by a wide range of symptoms, including intellectual disability, developmental delay, seizures, muscle weakness, and problems with movement and coordination. Additional features may include abnormal facial features, heart defects, and hearing loss. NGS (Next-Generation Sequencing) genetic testing is a diagnostic method used to identify mutations or variations in genes. In the context of HSD17B10 deficiency, NGS genetic testing can be used to identify mutations in the HSD17B10 gene. This can help confirm a diagnosis of HSD17B10 deficiency in individuals with suspected symptoms or a family history of the condition. NGS genetic testing involves sequencing the DNA of the individual being tested to identify any changes or variations in the HSD17B10 gene. This can be done using various techniques, such as whole-exome sequencing or targeted gene panel sequencing. The results of the genetic test can help guide medical management and provide information for genetic counseling. It is important to note that genetic testing for HSD17B10 deficiency should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate recommendations and support. |
