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HSD3B2 Gene 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 Genetic Test

3,200 د.إ

-43%

The HSD3B2 gene plays a crucial role in the biosynthesis of all classes of hormonal steroids, including glucocorticoids, mineralocorticoids, and sex steroids. Mutations in the HSD3B2 gene can lead to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2, a rare endocrine disorder that affects steroid hormone production. This condition can result in ambiguous genitalia in genetically male infants, adrenal insufficiency, and potentially life-threatening salt loss in early infancy.

To diagnose this condition, a genetic test targeting the HSD3B2 gene can be conducted. This test involves analyzing the DNA to identify mutations in the HSD3B2 gene that are known to cause the deficiency. It is a crucial step in confirming the diagnosis, which can then guide treatment and management strategies for affected individuals.

In the United Arab Emirates, DNA Labs UAE offers this specialized genetic test. The cost of the test is 3200 AED. Conducting the test at DNA Labs UAE ensures that patients receive accurate and reliable results, thanks to the lab’s commitment to using state-of-the-art genetic testing technologies and its team of experienced professionals. This test is not only pivotal for diagnosis but also for family planning and genetic counseling for families affected by 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2.

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HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 Genetic Test

At DNA Labs UAE, we offer the HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 Genetic Test for individuals who suspect they may have this genetic disorder. This test can provide valuable information about the presence of genetic variants in the HSD3B2 gene, which can help in confirming the diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency type 2.

Test Components and Price

  • Test Name: HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 Genetic Test
  • Price: 3200.0 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: Metabolic Disorders
  • Doctor: General Physician
  • Test Department: Genetics

Pre Test Information

Before undergoing the HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 Genetic 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 3-beta-hydroxysteroid dehydrogenase deficiency type 2.

Test Details

The HSD3B2 gene is responsible for encoding the enzyme 3-beta-hydroxysteroid dehydrogenase type 2 (3-HSD2), which is crucial for the production of steroid hormones like cortisol and aldosterone. A deficiency in the HSD3B2 gene can lead to 3-beta-hydroxysteroid dehydrogenase deficiency type 2, an autosomal recessive disorder characterized by impaired steroid hormone synthesis.

To diagnose this genetic disorder, we perform a Next-Generation Sequencing (NGS) genetic test. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes. In the case of HSD3B2 gene testing, the NGS panel specifically targets the HSD3B2 gene to identify any genetic variants or mutations that may be causing the deficiency.

NGS genetic testing can provide valuable information about the presence of genetic variants in the HSD3B2 gene, which can help confirm the diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency type 2. This information can also be used for genetic counseling, family planning, and potentially guiding treatment decisions.

Test Name HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 Genetic Test
Components
Price 3200.0 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 Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-beta-hydroxysteroid dehydrogenase deficiency type 2
Test Details

The HSD3B2 gene is responsible for encoding the enzyme 3-beta-hydroxysteroid dehydrogenase type 2 (3-HSD2). This enzyme plays a crucial role in the production of steroid hormones, including cortisol and aldosterone.

A deficiency in the HSD3B2 gene can lead to a condition known as 3-beta-hydroxysteroid dehydrogenase deficiency type 2. This is an autosomal recessive disorder characterized by impaired steroid hormone synthesis.

To diagnose this genetic disorder, a Next-Generation Sequencing (NGS) genetic test can be performed. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes. In the case of HSD3B2 gene testing, the NGS panel would specifically target the HSD3B2 gene to identify any genetic variants or mutations that may be causing the deficiency.

NGS genetic testing can provide valuable information about the presence of genetic variants in the HSD3B2 gene, which can help in confirming the diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency type 2. This information can also be used for genetic counseling, family planning, and potentially guiding treatment decisions.

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