Karyotyping for Detection of Fragile X Syndrome
Comprehensive Genetic Analysis for Fragile X Syndrome
Karyotyping for Detection of Fragile X Syndrome represents a cornerstone in modern genetic diagnostics, providing essential insights into one of the most common inherited forms of intellectual disability. This sophisticated chromosomal analysis technique enables healthcare providers to identify specific genetic abnormalities associated with Fragile X syndrome, offering families crucial information for medical management and future planning.
What Does This Test Measure and Detect?
This specialized karyotyping test employs advanced cell culture methodologies to examine the structural integrity and numerical composition of chromosomes, with particular focus on the X chromosome. The test specifically targets:
- Detection of FMR1 gene CGG triplet repeat expansions
- Identification of fragile sites on the X chromosome
- Analysis of chromosomal structure and organization
- Assessment of genetic markers associated with intellectual disabilities
- Evaluation of inheritance patterns for family counseling
Who Should Consider Fragile X Syndrome Karyotyping?
This genetic test is recommended for individuals exhibiting specific clinical indications or family history patterns:
- Children with unexplained developmental delays or intellectual disabilities
- Individuals displaying autism spectrum disorder characteristics
- Patients with family history of Fragile X syndrome or unexplained intellectual disability
- Women experiencing premature ovarian insufficiency
- Individuals with tremor/ataxia syndrome symptoms
- Couples planning pregnancy with known family history of genetic disorders
Significant Benefits of Fragile X Karyotyping
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Early Intervention Opportunities: Enables timely therapeutic interventions for affected individuals
- Family Planning Guidance: Provides crucial information for reproductive decision-making
- Accurate Diagnosis: Offers definitive answers for unexplained developmental concerns
- Genetic Counseling Support: Facilitates informed family discussions about inheritance risks
- Personalized Medical Management: Guides appropriate healthcare strategies based on genetic findings
Understanding Your Test Results
Our comprehensive results interpretation includes:
- Normal Results: Indicates typical chromosomal patterns without Fragile X-associated abnormalities
- Premutation Carriers: Identifies individuals with intermediate CGG repeats who may be at risk for related conditions
- Full Mutation Detection: Confirms diagnosis of Fragile X syndrome with expanded CGG repeats
- Detailed Genetic Counseling: Provides personalized explanation of results and implications
- Family Risk Assessment: Outlines inheritance patterns and risks for family members
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Karyotyping for Detection of Fragile X Syndrome | $188 USD | $250 USD |
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 other cities. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our Fragile X Syndrome karyotyping test provides the clarity and confidence you need for informed healthcare decisions. With rapid 7-10 day turnaround times and expert genetic counseling support, we make genetic testing accessible and understandable.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with America’s trusted genetic testing provider.
