FRAS1 Gene Fraser Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Developmental Disorders
The FRAS1 Gene Fraser Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the FRAS1 gene, which are responsible for Fraser syndrome. This rare autosomal recessive disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced next-generation sequencing technology provides comprehensive analysis of the FRAS1 gene, enabling healthcare providers to make informed decisions about patient care and family planning.
What Does This Test Measure and Detect?
This specialized genetic test specifically targets the FRAS1 gene located on chromosome 4q21.21, which encodes a protein essential for embryonic development. The test detects:
- Pathogenic variants and mutations in the FRAS1 gene
- Single nucleotide polymorphisms (SNPs) associated with Fraser syndrome
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations in autosomal recessive inheritance patterns
- Novel genetic variants requiring clinical correlation
Who Should Consider FRAS1 Genetic Testing?
This test is recommended for individuals presenting with clinical features suggestive of Fraser syndrome, including:
- Newborns or children with cryptophthalmos (hidden eyes)
- Individuals with syndactyly (fused fingers or toes)
- Patients with urogenital abnormalities
- Those with family history of Fraser syndrome
- Couples with previous affected children planning future pregnancies
- Individuals with ambiguous genitalia and renal anomalies
- Patients with laryngeal abnormalities or respiratory issues
Clinical Benefits of FRAS1 Genetic Testing
Undergoing FRAS1 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms clinical suspicions and differentiates from similar conditions
- Family Planning Guidance: Enables informed reproductive decisions and prenatal testing options
- Medical Management: Guides appropriate surgical interventions and multidisciplinary care
- Genetic Counseling: Provides risk assessment for family members
- Early Intervention: Facilitates timely management of associated complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your FRAS1 gene analysis:
- Positive Result: Identifies pathogenic mutations confirming Fraser syndrome diagnosis
- Negative Result: No mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
All results include detailed explanations and recommendations for next steps, with genetic counseling available to help you understand the implications for your health and family.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | FRAS1 Gene Fraser Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics and Genetics |
| Disease Category | Dysmorphology |
Pre-Test Requirements
Before scheduling your FRAS1 genetic test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of test implications and potential outcomes
- Informed consent understanding
- Insurance pre-authorization if applicable
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing 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 genetic counselors and healthcare professionals ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our FRAS1 Gene Fraser Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic analysis, you can gain valuable insights into this rare condition.
Ready to schedule your test? Call us today at +1(267) 388-9828 or book your appointment online. Our genetic specialists are available to answer your questions and guide you through the testing process.
Take control of your genetic health with advanced NGS technology and expert interpretation. Contact us now to begin your journey toward genetic understanding and personalized medical management.
