RBBP8 Gene Seckel Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Microcephalic Primordial Dwarfism
The RBBP8 Gene Seckel Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the RBBP8 gene, which are responsible for Seckel Syndrome Type 2. This rare autosomal recessive disorder falls under the category of microcephalic primordial dwarfism and is characterized by severe prenatal and postnatal growth retardation, microcephaly, and distinctive facial features. Our advanced genetic testing provides definitive answers for families and healthcare providers seeking accurate diagnosis and comprehensive management strategies.
What This Test Measures and Detects
This comprehensive genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the entire RBBP8 gene for pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the RBBP8 gene
- Compound heterozygous mutations
- Novel variants of uncertain significance
The RBBP8 gene encodes a protein involved in DNA damage response and cell cycle regulation. Mutations in this gene disrupt normal cellular processes, leading to the characteristic features of Seckel Syndrome Type 2 through impaired DNA repair mechanisms and cellular growth regulation.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with clinical features suggestive of Seckel Syndrome Type 2, including:
- Severe intrauterine growth restriction and postnatal growth failure
- Proportional microcephaly with head circumference below the 3rd percentile
- Distinctive facial features including prominent nose, receding forehead, and micrognathia
- Intellectual disability of varying severity
- Bird-like facial appearance with large eyes
- Family history of similar clinical presentations
- Couples with previous affected children planning future pregnancies
Clinical Benefits of Genetic Testing
Undergoing the RBBP8 Gene Seckel Syndrome Type 2 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Seckel Syndrome Type 2 with high accuracy
- Family Planning Guidance: Enables informed reproductive decisions and prenatal testing options
- Personalized Management: Guides appropriate medical surveillance and intervention strategies
- Genetic Counseling: Provides comprehensive risk assessment for family members
- Research Contribution: Helps expand understanding of rare genetic disorders
- Psychological Relief: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your test results with clarity and compassion:
- Positive Result: Identifies pathogenic mutations in the RBBP8 gene, confirming Seckel Syndrome Type 2 diagnosis
- Negative Result: No mutations detected, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals carrying one copy of mutated RBBP8 gene
All results are accompanied by detailed explanations and recommendations for next steps, including specialist referrals and management strategies.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients 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 consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
If you or your loved one exhibits symptoms suggestive of Seckel Syndrome Type 2, don’t delay in seeking definitive answers. Our comprehensive genetic testing provides the clarity needed for proper diagnosis and management. Contact our genetic counseling team today to schedule your test and begin your journey toward understanding.
Call or WhatsApp us now at +1(267) 388-9828 to book your RBBP8 Gene Seckel Syndrome Type 2 NGS Genetic DNA Test and take advantage of our special $500 pricing.
Our dedicated team is available to answer your questions, explain the testing process, and provide the support you need throughout your genetic testing journey. Early diagnosis leads to better management and improved quality of life for individuals with genetic disorders.
