PROP1 Gene Pituitary Hormone Deficiency Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Pituitary Hormone Disorders
The PROP1 Gene Pituitary Hormone Deficiency Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited endocrine disorders. This sophisticated genetic analysis utilizes next-generation sequencing technology to identify mutations in the PROP1 gene, which plays a critical role in pituitary gland development and hormone production. The pituitary gland, often called the “master gland,” regulates numerous essential bodily functions through hormone secretion, making accurate diagnosis of PROP1-related deficiencies vital for proper patient management.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the PROP1 gene located on chromosome 5q35.3, which encodes the PROP1 protein essential for pituitary development. The test detects:
- Point mutations, deletions, and insertions in the PROP1 gene
- Autosomal recessive inheritance patterns
- Genetic variants associated with combined pituitary hormone deficiency (CPHD)
- Mutations affecting growth hormone (GH), thyroid-stimulating hormone (TSH), prolactin, and gonadotropin production
- Genetic markers for progressive hormone loss over time
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Unexplained short stature and growth failure in childhood
- Delayed or absent puberty development
- Multiple pituitary hormone deficiencies
- Family history of pituitary disorders or hormonal imbalances
- Congenital hypothyroidism with normal thyroid gland anatomy
- Adrenal insufficiency with normal adrenal imaging
- Unexplained fatigue, cold intolerance, or metabolic abnormalities
- Children with suspected genetic syndromes affecting endocrine function
Clinical Benefits of PROP1 Genetic Testing
Undergoing PROP1 gene testing provides numerous clinical advantages:
- Definitive Diagnosis: Confirms genetic basis for hormone deficiencies, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted hormone replacement therapy based on specific deficiencies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Allows for proactive management before severe complications develop
- Prognostic Information: Helps predict disease progression and anticipate future hormone losses
- Cost-Effective Care: Reduces unnecessary testing and inappropriate treatments
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and endocrinologists:
- Positive Result: Identifies pathogenic variants in the PROP1 gene, confirming the genetic diagnosis of combined pituitary hormone deficiency type 2
- Negative Result: No disease-causing mutations detected, suggesting other causes for hormone deficiencies
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals with one copy of the mutated gene who may pass it to offspring
All positive results include comprehensive genetic counseling to discuss implications for the patient and family members, treatment options, and long-term management strategies.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information:
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Pediatrics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history including growth patterns and developmental milestones
- Previous endocrine testing results and hormone levels
- Participation in a genetic counseling session to create a detailed family pedigree
- Informed consent for genetic testing and potential implications
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in:
- New York City and surrounding metropolitan areas
- Los Angeles and Southern California regions
- Chicago and Midwest territories
- Houston, Dallas, and Texas locations
- Phoenix, Arizona and Southwest facilities
- All other major metropolitan areas nationwide
Our state-of-the-art laboratories utilize the latest NGS technology and maintain CLIA certification for accurate, reliable genetic testing results.
Take Control of Your Genetic Health Today
Don’t let uncertainty about pituitary hormone deficiencies affect your quality of life. The PROP1 Gene Pituitary Hormone Deficiency Type 2 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and treatment. Our experienced genetic counselors and endocrine specialists are ready to guide you through the testing process and help interpret your results.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic health and achieving optimal hormonal balance.
