FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hormonal Disorders
The FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hormonal and reproductive disorders. This advanced test specifically targets mutations in the Fibroblast Growth Factor Receptor 1 (FGFR1) gene, which plays a critical role in the development of the hypothalamic-pituitary-gonadal axis. Kallmann Syndrome Type 2 is a rare genetic condition characterized by the combination of hypogonadotropic hypogonadism (delayed or absent puberty) and anosmia (inability to smell).
What Does This Test Measure and Detect?
This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to comprehensively examine the FGFR1 gene for:
- Point mutations affecting protein function
- Insertions and deletions disrupting gene expression
- Copy number variations impacting gene dosage
- Splice site mutations altering protein structure
- Regulatory region variants affecting gene expression
The test provides a complete genetic profile of the FGFR1 gene, enabling precise identification of pathogenic variants responsible for Kallmann Syndrome Type 2. This information is crucial for confirming diagnosis, understanding disease mechanisms, and guiding appropriate treatment strategies.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Delayed Puberty: Individuals aged 14+ without signs of pubertal development
- Reproductive Concerns: Infertility issues or absent menstrual cycles in females
- Olfactory Dysfunction: Complete or partial loss of smell (anosmia or hyposmia)
- Family History: Relatives with Kallmann Syndrome or similar hormonal disorders
- Unexplained Hormonal Deficiencies: Low levels of reproductive hormones without clear cause
- Associated Features: Cleft lip/palate, dental agenesis, or hearing loss
Significant Benefits of Genetic Testing
Undergoing the FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic DNA Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of Kallmann Syndrome Type 2
- Personalized Treatment: Enables targeted hormone replacement therapy based on genetic findings
- Family Planning: Informs reproductive decisions and genetic counseling for future generations
- Early Intervention: Facilitates timely treatment to prevent complications of delayed puberty
- Comprehensive Understanding: Explains the underlying cause of symptoms and associated features
- Psychological Relief: Provides answers and reduces uncertainty about health concerns
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Indicates the presence of a pathogenic FGFR1 mutation confirming Kallmann Syndrome Type 2 diagnosis
- Negative Result: Suggests that FGFR1 mutations are not the cause of symptoms, though other genetic factors may be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: May reveal information about inheritance patterns and family risk assessment
All results include detailed explanations and recommendations for next steps, including appropriate medical management, additional testing considerations, and genetic counseling options.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic DNA Test – Discount Price | $500 |
| FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient 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 testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your hormonal health or reproductive concerns continue unanswered. The FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic DNA Test provides the clarity and answers you need for informed medical decisions and personalized treatment planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment. Our compassionate genetic counselors are ready to answer your questions and guide you through the testing process with expertise and care.
Take the first step toward understanding your genetic health and achieving optimal wellness. Book your FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic DNA Test now and gain valuable insights into your hormonal and reproductive health.
