FMR1 Gene Fragile X Syndrome NGS Genetic DNA Test
Comprehensive Genetic Screening for Neurological Disorders
The FMR1 Gene Fragile X Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neurological conditions. This advanced testing method utilizes next-generation sequencing technology to detect mutations in the FMR1 gene, which is responsible for Fragile X syndrome – the most common inherited form of intellectual disability worldwide. Early detection through this precise genetic analysis enables proactive management and intervention strategies for affected individuals and their families.
What Does the FMR1 Gene Test Measure?
This sophisticated genetic test specifically targets the FMR1 gene located on the X chromosome, analyzing CGG trinucleotide repeat expansions that characterize Fragile X syndrome. The test accurately measures:
- CGG repeat length in the FMR1 gene promoter region
- Presence of premutation carriers (55-200 repeats)
- Full mutation status (over 200 repeats)
- Methylation status of the FMR1 gene
- Associated genetic markers for related conditions
Who Should Consider This Genetic Test?
This comprehensive genetic screening is recommended for individuals exhibiting specific symptoms or having particular risk factors:
- Children with developmental delays, intellectual disability, or autism spectrum features
- Individuals with family history of Fragile X syndrome or unexplained intellectual disability
- Women experiencing premature ovarian insufficiency or fertility challenges
- Adults showing symptoms of Fragile X-associated tremor/ataxia syndrome (FXTAS)
- Couples planning pregnancy with family history of neurological disorders
- Individuals with characteristic physical features associated with Fragile X syndrome
Key Benefits of FMR1 Genetic Testing
Undergoing FMR1 gene testing provides numerous advantages for patients and families:
- Early diagnosis enabling timely intervention and support services
- Accurate genetic counseling for family planning decisions
- Identification of carrier status for unaffected family members
- Personalized educational and therapeutic approaches
- Reduction of unnecessary diagnostic procedures through targeted testing
- Improved understanding of inheritance patterns within families
- Access to specialized resources and support networks
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your FMR1 gene test results:
- Normal Range: Less than 45 CGG repeats indicates no increased risk
- Gray Zone: 45-54 repeats may have minimal clinical significance
- Premutation: 55-200 repeats indicates carrier status with potential risks
- Full Mutation: Over 200 repeats confirms Fragile X syndrome diagnosis
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | FMR1 Gene Fragile X 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 |
Pre-Test Requirements and Genetic Counseling
Before undergoing FMR1 genetic testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified specialists
- Development of detailed family pedigree chart
- Discussion of potential implications and outcomes
- Informed consent process explaining benefits and limitations
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 cities. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic risks impact your family’s future. Our FMR1 Gene Fragile X Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. Contact our genetic specialists today to schedule your comprehensive evaluation and testing.
Call or WhatsApp: +1(267) 388-9828 to book your appointment or discuss your testing options with our genetic counseling team. Early detection through advanced genetic testing can make a significant difference in managing neurological conditions and planning for the future.
