RBBP8 Gene Jawad Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Jawad Syndrome
The RBBP8 Gene Jawad Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the RBBP8 gene, which are responsible for causing Jawad Syndrome. This rare autosomal recessive disorder is characterized by distinctive clinical features including facial dysmorphism, growth retardation, and developmental delays. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variants associated with this condition, enabling precise diagnosis and informed medical decision-making.
What Does the Test Measure and Detect?
This specialized genetic test specifically targets the RBBP8 gene (Retinoblastoma Binding Protein 8), which plays a crucial role in DNA repair mechanisms and cell cycle regulation. The test utilizes next-generation sequencing technology to:
- Identify pathogenic variants and mutations in the RBBP8 gene
- Detect single nucleotide variants, insertions, deletions, and copy number variations
- Provide comprehensive analysis of the entire coding region and splice sites
- Offer high-resolution detection of genetic abnormalities associated with Jawad Syndrome
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of Jawad Syndrome, including:
- Infants and children with distinctive facial dysmorphism
- Individuals exhibiting growth retardation and developmental delays
- Patients with intellectual disability or learning difficulties
- Those with microcephaly or other neurological abnormalities
- Individuals with a family history of Jawad Syndrome or consanguineous parents
- Patients with unexplained dysmorphic features and skeletal abnormalities
Benefits of Taking the RBBP8 Gene Test
Undergoing this comprehensive genetic analysis offers numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive identification of RBBP8 gene mutations
- Personalized Management: Enables tailored treatment and intervention strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of developmental support services
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services ensure you fully understand your test results:
- Positive Result: Indicates the presence of pathogenic mutations in the RBBP8 gene, confirming Jawad Syndrome diagnosis
- Negative Result: Suggests no detectable mutations in the RBBP8 gene, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | RBBP8 Gene Jawad 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 |
| Specialty | Pediatrics, Genetics |
| Method | NGS Technology |
| Disease Type | Dysmorphology |
Pre-Test Requirements
Before undergoing testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed pedigree chart
- Documentation of affected family members with similar symptoms
- Informed consent for genetic testing
Nationwide Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Book Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support. Contact us today to schedule your appointment or speak with a genetic counselor.
Call or WhatsApp: +1(267) 388-9828
Don’t wait to get the answers you need for better health management and family planning. Our dedicated team is committed to providing exceptional genetic testing services with compassion and expertise.
