Short Description

NGS genetic DNA test detecets for variant and mutation detection in AKR1C4 gene for 46,XY sex reversal type 8, modifier of

PreTest Information

Clinical History of Patient who is going for AKR1C4 Gene 46,XY sex reversal type 8, modifier of NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AKR1C4 Gene 46,XY sex reversal type 8, modifier of NGS Genetic DNA Test gene AKR1C4

Detail Description

AKR1C4 Gene and 46,XY Sex Reversal Type 8: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Introduction: The AKR1C4 gene plays a crucial role in the development of male sexual characteristics. Any mutations or changes in this gene can lead to 46,XY sex reversal type 8, a condition in which a person with XY chromosomes develops female genitalia and other female secondary sexual characteristics. This genetic disorder affects 1 in 20,000 to 25,000 individuals worldwide.

Symptoms:

Individuals with 46,XY sex reversal type 8 may exhibit the following symptoms:

• Female genitalia
• Undescended testes or absence of testes
• Infertility
• Lack of body hair and muscle mass
• Delayed puberty

Diagnosis:

Diagnosis of 46,XY sex reversal type 8 involves a physical examination, genetic testing, and imaging studies. A doctor may perform a pelvic exam to check for female genitalia and order blood tests to check for hormone levels. Imaging studies such as ultrasound or MRI may be done to check the internal reproductive organs. A genetic test is also necessary to confirm the diagnosis, which involves analyzing the AKR1C4 gene.

NGS Genetic DNA Test Cost:

The cost of NGS genetic DNA testing for AKR1C4 gene mutations varies depending on the provider and location. In India, the cost of NGS genetic DNA testing for AKR1C4 gene mutations is around INR 20,000.

Conclusion:

Early diagnosis of 46,XY sex reversal type 8 is crucial for appropriate management and treatment. Genetic testing is necessary to confirm the diagnosis, and NGS genetic DNA testing for AKR1C4 gene mutations is available in India at a cost of INR 20,000. If you suspect that you or a loved one may have this condition, it is important to consult a doctor and undergo the necessary tests for accurate diagnosis and appropriate treatment.