HS6ST1 Gene Hypogonadotropic Hypogonadism Type 15 with or without Anosmia NGS Genetic DNA Test
Comprehensive Genetic Testing for Endocrine Disorders
The HS6ST1 Gene Hypogonadotropic Hypogonadism Type 15 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with this rare endocrine condition. Hypogonadotropic hypogonadism type 15 is characterized by impaired production of gonadotropin-releasing hormone (GnRH), leading to delayed or absent puberty and potential reproductive challenges. This condition may occur with or without anosmia (loss of smell), creating a complex clinical presentation that requires precise genetic analysis for accurate diagnosis and management.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) test specifically targets the HS6ST1 gene, which plays a critical role in the development and function of the hypothalamic-pituitary-gonadal axis. The test identifies:
- Pathogenic variants in the HS6ST1 gene coding regions
- Missense, nonsense, and frameshift mutations
- Copy number variations affecting gene function
- Regulatory region abnormalities impacting gene expression
- Inheritance patterns through family genetic analysis
Clinical Significance of HS6ST1 Mutations
The HS6ST1 gene encodes heparan sulfate 6-O-sulfotransferase 1, an enzyme essential for proper development of GnRH neurons during embryonic development. Mutations in this gene disrupt the migration of these neurons from the olfactory placode to the hypothalamus, explaining the connection between reproductive dysfunction and potential smell impairment.
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with:
- Delayed Puberty: Absence of secondary sexual characteristics by age 14 in boys or 13 in girls
- Infertility Concerns: Unexplained infertility with low gonadotropin levels
- Anosmia or Hyposmia: Complete or partial loss of smell sensation
- Family History: Relatives diagnosed with hypogonadotropic hypogonadism
- Endocrine Abnormalities: Low LH, FSH, and sex steroid hormone levels
- Developmental Delays: Associated with reproductive system maturation
Early Detection Benefits
Early genetic diagnosis enables timely intervention and appropriate management strategies. Identifying HS6ST1 mutations allows healthcare providers to implement hormone replacement therapy at optimal times, potentially improving long-term reproductive outcomes and quality of life.
Comprehensive Benefits of Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of hypogonadotropic hypogonadism type 15
- Personalized Treatment: Guides hormone replacement therapy timing and dosing
- Family Planning: Informs reproductive decisions and genetic counseling
- Prognostic Information: Helps predict disease progression and potential complications
- Differential Diagnosis: Distinguishes between different forms of hypogonadism
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical context:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the HS6ST1 gene, confirming the diagnosis of hypogonadotropic hypogonadism type 15. This finding enables targeted management strategies and provides valuable information for family members who may wish to undergo testing.
Negative Result Interpretation
A negative result suggests that HS6ST1 mutations are not responsible for the clinical presentation. This information helps direct further diagnostic evaluation toward other potential causes of hypogonadotropic hypogonadism.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance (VUS). In such cases, additional family studies or periodic re-evaluation may be recommended as genetic knowledge advances.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | HS6ST1 Gene Hypogonadotropic Hypogonadism Type 15 with or without Anosmia NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements and Genetic Counseling
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Discussion of potential implications for family members
- Informed consent process explaining benefits and limitations
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your reproductive health or genetic condition prevent you from getting the answers you need. Our HS6ST1 genetic testing provides clarity, guidance, and peace of mind for individuals and families affected by hypogonadotropic hypogonadism.
Ready to schedule your genetic test? Contact our genetic specialists today to discuss your testing options and arrange for sample collection. Call us at +1(267) 388-9828 or visit our website to book your appointment. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Take the first step toward understanding your genetic health and receiving personalized medical guidance. Early detection and accurate diagnosis can significantly impact treatment outcomes and quality of life. Trust our experienced genetic testing professionals to provide the comprehensive analysis and support you deserve.
