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HSD17B3 Gene Pseudohermaphroditism with gynecomastia Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The HSD17B3 gene is crucial in the development of male sexual characteristics, specifically in the conversion of androstenedione to testosterone, a key step in male hormone synthesis. Mutations in the HSD17B3 gene can lead to a rare form of pseudohermaphroditism, where an individual has male genetic makeup (46,XY) but develops female or ambiguous external genitalia due to the inability to produce enough testosterone during fetal development. This condition can also manifest with gynecomastia, which is the enlargement of breast tissue in males, during puberty when hormonal imbalances become more pronounced.

A genetic test focusing on the HSD17B3 gene can help in diagnosing this specific cause of pseudohermaphroditism with gynecomastia. This test is available at DNA Labs UAE, offering a comprehensive analysis to identify mutations in the HSD17B3 gene. Understanding these genetic underpinnings is crucial for proper management and treatment of affected individuals, guiding decisions regarding hormone therapy and surgical interventions.

The cost of the test is set at 4400 AED. It is a valuable investment for those seeking clarity on their diagnosis, enabling targeted treatment plans and providing essential information for family planning. The test is conducted with high precision and confidentiality, ensuring reliable results for patients and their families.

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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.

SKU: TEST-3840 Category:

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