FGD1 Gene Faciogenital Dysplasia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Aarskog-Scott Syndrome
The FGD1 Gene Faciogenital Dysplasia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Aarskog-Scott syndrome, a rare X-linked genetic disorder. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide precise detection of FGD1 gene variants, offering crucial insights for accurate diagnosis and personalized treatment planning.
What This Advanced Genetic Test Measures
This sophisticated genetic test specifically targets the FGD1 gene located on the X chromosome, which encodes the faciogenital dysplasia protein. The test employs next-generation sequencing technology to:
- Identify point mutations, deletions, and insertions within the FGD1 gene
- Detect missense, nonsense, and frameshift mutations affecting protein function
- Analyze the entire coding region and splice sites of the FGD1 gene
- Provide comprehensive variant analysis for accurate genetic counseling
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with characteristic features of Aarskog-Scott syndrome, including:
- Children with distinctive facial features: hypertelorism, down-slanting palpebral fissures, widow’s peak hairline
- Individuals with skeletal abnormalities: short stature, brachydactyly, joint hypermobility
- Males with genital malformations: shawl scrotum, cryptorchidism
- Patients with developmental delays or learning difficulties
- Individuals with a family history suggestive of X-linked inheritance pattern
- Those with unexplained combination of facial, skeletal, and genital abnormalities
Significant Benefits of FGD1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Aarskog-Scott syndrome with high precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Personalized Management: Facilitates tailored treatment approaches based on genetic findings
- Early Intervention: Allows for proactive management of associated health concerns
- Genetic Counseling: Provides basis for comprehensive family genetic counseling sessions
- Research Contribution: Contributes to ongoing understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your FGD1 gene analysis:
- Positive Result: Identification of a pathogenic variant confirms Aarskog-Scott syndrome diagnosis
- Negative Result: No detected mutations significantly reduces likelihood of FGD1-related disorder
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for female relatives regarding inheritance risk
All results are accompanied by detailed genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
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, and numerous other cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality 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 FGD1 Gene Faciogenital Dysplasia NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With a turnaround time of 3-4 weeks and sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through every step of the genetic testing process, from initial consultation to comprehensive result interpretation.
