FREM2 Gene Fraser Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Fraser Syndrome
The FREM2 Gene Fraser Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the FREM2 gene, which are responsible for causing Fraser syndrome. This rare autosomal recessive genetic disorder affects approximately 1 in 200,000 live births and is characterized by multiple congenital anomalies that can significantly impact quality of life. Our advanced testing methodology provides definitive answers for families and healthcare providers seeking accurate diagnosis and appropriate management strategies.
What Does This Test Measure and Detect?
This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire coding region of the FREM2 gene. The test specifically identifies:
- Pathogenic variants and mutations in the FREM2 gene
- Single nucleotide polymorphisms (SNPs) associated with Fraser syndrome
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations that cause the autosomal recessive condition
- Novel variants of uncertain significance with clinical correlation
Who Should Consider This Test?
This genetic 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 laryngeal or renal malformations
- Individuals with a family history of Fraser syndrome
- Couples with previous affected children planning future pregnancies
- Patients with ambiguous genitalia or hearing impairment
Clinical Benefits of FREM2 Genetic Testing
Undergoing the FREM2 Gene Fraser Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Fraser syndrome with high accuracy
- Family Planning Guidance: Enables informed reproductive decisions for at-risk couples
- Early Intervention: Facilitates timely medical and surgical management
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Treatment Planning: Guides multidisciplinary care approach
- Prognostic Information: Helps anticipate potential complications
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors. Possible outcomes include:
- Positive Result: Identification of two pathogenic mutations confirms Fraser syndrome diagnosis
- Negative Result: No FREM2 mutations detected, reducing likelihood of Fraser syndrome
- Carrier Status: Identification of one mutation indicates carrier status without disease manifestation
- Variant of Uncertain Significance: Requires additional family studies for interpretation
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | FREM2 Gene Fraser 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 you have:
- Complete clinical history of the patient
- Scheduled genetic counseling session
- Prepared pedigree chart of affected family members
- Relevant medical records and previous test results
Nationwide Accessibility
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 medical professionals ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about Fraser syndrome affect your family’s future. Our FREM2 Gene Fraser Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and family planning. With our discounted price of only $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your genetic health.
