CYP17A1 Gene 17-Hydroxylation Activity Deficiency NGS Genetic DNA Test
Understanding CYP17A1 Gene Deficiency
The CYP17A1 Gene 17-Hydroxylation Activity Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This advanced genetic screening examines the CYP17A1 gene, which encodes the enzyme 17α-hydroxylase/17,20-lyase. This crucial enzyme plays a vital role in steroid hormone biosynthesis, specifically in the conversion of pregnenolone and progesterone to their 17-hydroxylated derivatives. When this enzyme is deficient, it disrupts the normal production of cortisol, androgens, and estrogens, leading to complex endocrine disorders that can significantly impact health and development.
What This Test Measures and Detects
Our comprehensive NGS-based test specifically targets:
- Mutations in the CYP17A1 gene affecting 17-hydroxylation activity
- Genetic variants responsible for combined 17α-hydroxylase/17,20-lyase deficiency
- Point mutations, deletions, and insertions impacting enzyme function
- Inheritance patterns of autosomal recessive disorders
- Risk assessment for developing associated metabolic conditions
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
Clinical Symptoms and Indications
- Ambiguous genitalia in newborns or infants
- Delayed puberty or absence of secondary sexual characteristics
- Hypertension with hypokalemia in young individuals
- Infertility issues with unexplained causes
- Family history of 17-hydroxylation deficiency or related metabolic disorders
- Primary amenorrhea in females with normal female internal genitalia
- Male pseudohermaphroditism with female external genitalia
Benefits of CYP17A1 Genetic Testing
Early Diagnosis and Intervention
Early detection through genetic testing enables timely medical intervention, potentially preventing serious complications associated with steroid hormone imbalances. This proactive approach allows for:
- Personalized treatment plans based on specific genetic mutations
- Prevention of long-term metabolic complications
- Improved quality of life through targeted hormone replacement therapy
- Better management of blood pressure and electrolyte imbalances
Family Planning and Genetic Counseling
The test results provide valuable information for family planning decisions and genetic counseling, helping families understand inheritance risks and make informed reproductive choices.
Understanding Your Test Results
Interpretation Guidelines
Your test results will be carefully analyzed and interpreted by our team of genetic specialists:
- Positive Result: Indicates the presence of pathogenic mutations in the CYP17A1 gene, confirming 17-hydroxylation activity deficiency
- Negative Result: Suggests no detectable mutations in the analyzed regions, though does not completely rule out the condition
- Variant of Uncertain Significance (VUS): Requires additional clinical correlation and possibly family studies
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but typically don’t show symptoms
Post-Test Recommendations
Following your results, we recommend:
- Consultation with an endocrinologist or metabolic specialist
- Regular monitoring of blood pressure and electrolyte levels
- Appropriate hormone replacement therapy if indicated
- Follow-up genetic counseling for family members
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CYP17A1 Gene 17-Hydroxylation Activity Deficiency NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 |
| Specialty | Metabolic Genetics |
Pre-Test Instructions
For optimal testing accuracy, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of potential implications for family members
- Understanding of test limitations and possible outcomes
Nationwide Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about genetic metabolic disorders affect your health decisions. Our CYP17A1 Gene 17-Hydroxylation Activity Deficiency NGS Genetic DNA Test provides the clarity and confidence you need for proper diagnosis and treatment planning. With our discounted price of $500 and comprehensive genetic analysis, you’re investing in accurate, reliable results that can guide your healthcare journey.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Our genetic specialists are available to answer your questions and guide you through the testing process.
