POU1F1 Gene Pituitary Hormone Deficiency Type 1 NGS Genetic DNA Test
Understanding Pituitary Hormone Deficiency Type 1
Pituitary hormone deficiency type 1 is a rare genetic disorder caused by mutations in the POU1F1 gene, which plays a critical role in the development and function of the pituitary gland. This condition affects the production of essential hormones including growth hormone (GH), thyroid-stimulating hormone (TSH), and prolactin (PRL). The POU1F1 gene provides instructions for making a protein that acts as a transcription factor, regulating the development of specific hormone-producing cells in the pituitary gland during embryonic development.
What This Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically analyzes the POU1F1 gene to identify pathogenic variants that cause pituitary hormone deficiencies. The test detects:
- Point mutations in the POU1F1 gene coding regions
- Small insertions and deletions affecting gene function
- Regulatory region mutations impacting gene expression
- Both inherited and de novo genetic variants
Clinical Significance of POU1F1 Mutations
Mutations in the POU1F1 gene disrupt the normal development of somatotrophs, thyrotrophs, and lactotrophs in the anterior pituitary gland. This leads to combined pituitary hormone deficiency (CPHD), characterized by insufficient production of growth hormone, thyroid-stimulating hormone, and prolactin. Early detection through genetic testing allows for timely hormone replacement therapy and prevents long-term complications.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Severe growth retardation and short stature in childhood
- Delayed puberty and sexual maturation
- Hypothyroidism symptoms including fatigue, weight gain, and cold intolerance
- Family history of pituitary hormone deficiencies
- Unexplained developmental delays in infants and children
- Multiple anterior pituitary hormone deficiencies
- Consanguineous parents with suspected autosomal recessive inheritance
Pediatric Considerations
Children with POU1F1 mutations typically present with growth failure within the first few years of life. Additional features may include hypoglycemia, prolonged jaundice in newborns, and characteristic facial features such as frontal bossing and midface hypoplasia. Early genetic testing can guide appropriate hormone replacement therapy and improve long-term outcomes.
Benefits of POU1F1 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of pituitary hormone deficiency type 1
- Personalized Treatment: Enables targeted hormone replacement therapy based on specific genetic findings
- Family Planning: Identifies carriers and provides recurrence risk information for future pregnancies
- Early Intervention: Facilitates prompt treatment initiation to prevent complications
- Comprehensive Analysis: Utilizes next-generation sequencing for high detection sensitivity
- Genetic Counseling: Supports informed decision-making for affected families
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into one of these categories:
Positive Result
A positive result indicates the presence of pathogenic mutations in the POU1F1 gene confirming the diagnosis of pituitary hormone deficiency type 1. This result enables:
- Initiation of appropriate hormone replacement therapy
- Regular monitoring of growth and development
- Family member testing for carrier status
- Long-term management planning
Negative Result
A negative result suggests that no pathogenic variants were detected in the POU1F1 gene. However, this does not completely rule out pituitary hormone deficiencies, as other genetic or non-genetic causes may be responsible for the clinical presentation.
Variant of Uncertain Significance (VUS)
In some cases, genetic changes of unknown clinical significance may be identified. These variants require additional family studies and ongoing research to determine their clinical relevance.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | POU1F1 Gene Pituitary Hormone Deficiency Type 1 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 |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Previous endocrine testing results if available
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about pituitary hormone deficiencies affect your quality of life. Our comprehensive POU1F1 genetic testing provides the answers you need for proper diagnosis and treatment. With our discounted price of only $500, advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Our genetic specialists are ready to help you understand your genetic health and take the next steps toward optimal care.
