SRCAP Gene Floating-Harbor Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Developmental Disorders
The SRCAP Gene Floating-Harbor Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in modern genetic medicine. This specialized test utilizes next-generation sequencing technology to identify mutations in the SRCAP (Snf2-related CREBBP activator protein) gene, which is responsible for Floating-Harbor Syndrome—a rare genetic disorder characterized by distinctive physical features, developmental delays, and skeletal abnormalities. Understanding your genetic profile through this test can provide crucial insights for accurate diagnosis and personalized treatment planning.
What This Test Measures and Detects
This advanced genetic screening specifically targets the SRCAP gene located on chromosome 16, examining it for pathogenic variants that cause Floating-Harbor Syndrome. The test employs sophisticated NGS technology to sequence the entire coding region of the SRCAP gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the SRCAP gene
- Pathogenic variants associated with autosomal dominant inheritance
Who Should Consider This Genetic Test
This test is particularly recommended for individuals exhibiting the following symptoms or clinical presentations:
- Children with significant developmental delays in speech and language
- Individuals with short stature disproportionate to family height
- Patients with distinctive facial features including triangular face, deep-set eyes, and prominent nose
- Those with skeletal abnormalities such as brachydactyly or clinodactyly
- Individuals with delayed bone age and growth retardation
- Patients with a family history suggestive of Floating-Harbor Syndrome
- Children with unexplained intellectual disability or learning challenges
Key Benefits of Genetic Testing
Undergoing the SRCAP Gene Floating-Harbor Syndrome NGS Genetic DNA Test offers numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of Floating-Harbor Syndrome
- Personalized Treatment: Enables tailored management strategies based on genetic findings
- Family Planning: Offers valuable information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of developmental therapies
- Medical Management: Guides appropriate monitoring for associated health concerns
- Psychological Relief: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. The report will include:
- Positive Result: Indicates the presence of a pathogenic SRCAP gene mutation, confirming Floating-Harbor Syndrome diagnosis
- Negative Result: Suggests no detectable mutation in the SRCAP gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Comprehensive Interpretation: Detailed explanation of findings and their clinical relevance
All results are accompanied by genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SRCAP Gene Floating-Harbor Syndrome NGS Genetic DNA Test | $500 USD | $700 USD |
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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our experienced team of genetic specialists is ready to provide comprehensive testing and counseling services. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card, getting answers has never been more accessible.
Book your SRCAP Gene Floating-Harbor Syndrome NGS Genetic DNA Test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health journey with confidence and clarity.
