HSD17B3 Gene Pseudohermaphroditism with gynecomastia Genetic Test
Test Name: HSD17B3 Gene Pseudohermaphroditism with gynecomastia Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Reproductive Disorders
Doctor: Gynecology
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic DNA Test gene HSD17B3
Test Details
The HSD17B3 gene is responsible for encoding an enzyme called 17-beta-hydroxysteroid dehydrogenase 3, which is involved in the production of testosterone. Mutations in this gene can lead to a condition known as 17-beta-hydroxysteroid dehydrogenase 3 deficiency, or pseudohermaphroditism with gynecomastia.
Pseudohermaphroditism refers to individuals who have ambiguous genitalia, meaning their external genitalia do not clearly resemble either male or female genitalia. In the case of HSD17B3 deficiency, affected individuals are genetically male (XY), but they may have female or ambiguous external genitalia at birth. Gynecomastia, on the other hand, is the development of breast tissue in males. In individuals with HSD17B3 deficiency, gynecomastia can occur during puberty due to an imbalance in sex hormones.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously, allowing for a more comprehensive evaluation of genetic variations. In the context of HSD17B3 deficiency, NGS genetic testing can identify mutations or variations in the HSD17B3 gene that may be responsible for the condition.
By identifying these genetic variations, NGS testing can help in diagnosing individuals with pseudohermaphroditism and gynecomastia, and also aid in genetic counseling and family planning decisions. Additionally, NGS testing can provide insights into the specific genetic alterations that underlie the condition, which can help in understanding the underlying mechanisms and potentially developing targeted treatment approaches in the future.
Test Name | HSD17B3 Gene Pseudohermaphroditism with gynecomastia 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 | Reproductive Disorders |
Doctor | Gynecology |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic DNA Test gene HSD17B3 |
Test Details |
The HSD17B3 gene is responsible for encoding an enzyme called 17-beta-hydroxysteroid dehydrogenase 3, which is involved in the production of testosterone. Mutations in this gene can lead to a condition known as 17-beta-hydroxysteroid dehydrogenase 3 deficiency, or pseudohermaphroditism with gynecomastia. Pseudohermaphroditism refers to individuals who have ambiguous genitalia, meaning their external genitalia do not clearly resemble either male or female genitalia. In the case of HSD17B3 deficiency, affected individuals are genetically male (XY), but they may have female or ambiguous external genitalia at birth. Gynecomastia, on the other hand, is the development of breast tissue in males. In individuals with HSD17B3 deficiency, gynecomastia can occur during puberty due to an imbalance in sex hormones. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously, allowing for a more comprehensive evaluation of genetic variations. In the context of HSD17B3 deficiency, NGS genetic testing can identify mutations or variations in the HSD17B3 gene that may be responsible for the condition. By identifying these genetic variations, NGS testing can help in diagnosing individuals with pseudohermaphroditism and gynecomastia, and also aid in genetic counseling and family planning decisions. Additionally, NGS testing can provide insights into the specific genetic alterations that underlie the condition, which can help in understanding the underlying mechanisms and potentially developing targeted treatment approaches in the future. |