PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic DNA Test
Understanding Borjeson-Forssman-Lehmann Syndrome
Borjeson-Forssman-Lehmann Syndrome (BFLS) is a rare X-linked genetic disorder characterized by intellectual disability, distinctive facial features, and various physical abnormalities. This condition primarily affects males, though female carriers may show milder symptoms. The PHF6 gene, located on the X chromosome, plays a crucial role in brain development and function, making accurate genetic testing essential for proper diagnosis and management.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically analyzes the PHF6 gene for mutations associated with Borjeson-Forssman-Lehmann Syndrome. The test identifies:
- Point mutations in the PHF6 gene coding regions
- Small insertions and deletions affecting gene function
- Regulatory region variations impacting gene expression
- Novel mutations not previously documented
Who Should Consider This Test
This genetic test is recommended for individuals displaying symptoms consistent with Borjeson-Forssman-Lehmann Syndrome, including:
- Children or adults with unexplained intellectual disability
- Individuals with developmental delays and learning difficulties
- Patients with characteristic facial features (coarse facies, deep-set eyes, large ears)
- Those experiencing seizures or epilepsy of unknown origin
- Individuals with hypogonadism or delayed puberty
- Patients with obesity and tapered fingers
- Family members of diagnosed individuals for carrier testing
Key Benefits of PHF6 Genetic Testing
Undergoing PHF6 gene testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirm or rule out Borjeson-Forssman-Lehmann Syndrome with precision
- Personalized Treatment: Guide appropriate medical management and therapeutic interventions
- Genetic Counseling: Provide accurate recurrence risk information for family planning
- Early Intervention: Enable timely educational and developmental support
- Peace of Mind: Reduce diagnostic uncertainty and provide clear answers
- Research Contribution: Help advance understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results:
- Positive Result: Indicates a pathogenic mutation in the PHF6 gene, confirming Borjeson-Forssman-Lehmann Syndrome diagnosis
- Negative Result: Suggests no detectable PHF6 mutation, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for female relatives regarding inheritance risks
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | PHF6 Gene Borjeson-Forssman-Lehmann Syndrome 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:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure accurate and reliable results for patients nationwide.
Take the Next Step Toward Clarity
If you or a family member are experiencing symptoms suggestive of Borjeson-Forssman-Lehmann Syndrome, don’t wait to get answers. Our experienced genetic specialists are ready to help you understand your genetic health and provide the guidance you need for proper management and treatment.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your PHF6 genetic test consultation and take control of your neurological health journey.
