ATRIP Gene Seckel Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Microcephalic Primordial Dwarfism
The ATRIP Gene Seckel Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ATRIP (ATR Interacting Protein) gene, which plays a critical role in DNA damage response and cell cycle regulation. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the ATRIP gene, enabling precise detection of pathogenic variants associated with Seckel syndrome, a rare autosomal recessive disorder characterized by severe growth retardation and microcephaly.
What This Test Measures and Detects
This advanced genetic test specifically targets and sequences the entire ATRIP gene to identify:
- Point mutations, insertions, and deletions in the ATRIP gene coding regions
- Pathogenic variants affecting DNA damage response mechanisms
- Mutations disrupting the ATR-ATRIP complex formation
- Genetic alterations impacting cell cycle checkpoint control
- Inheritance patterns through comprehensive variant analysis
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with clinical features suggestive of Seckel syndrome, including:
- Infants and children with severe intrauterine growth retardation
- Individuals exhibiting proportional dwarfism with adult height typically below 100 cm
- Patients with significant microcephaly (head circumference below 3rd percentile)
- Those displaying characteristic “bird-headed” facial features including prominent nose, receding forehead, and micrognathia
- Individuals with intellectual disability of varying severity
- Patients with skeletal abnormalities including clinodactyly and hip dislocation
- Families with history of consanguinity and similar clinical presentations
Clinical Benefits of ATRIP Gene Testing
Undergoing the ATRIP Gene Seckel Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Seckel syndrome with high accuracy
- Family Planning Guidance: Enables informed reproductive decisions through carrier testing
- Personalized Management: Guides appropriate medical surveillance and interventions
- Prognostic Information: Helps anticipate potential complications and developmental outcomes
- Genetic Counseling: Provides basis for comprehensive family genetic counseling sessions
- Research Contribution: Contributes to ongoing understanding of rare genetic disorders
Understanding Your Test Results
Your ATRIP Gene Seckel Syndrome NGS Genetic DNA Test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Identification of pathogenic mutations in both ATRIP gene copies confirms Seckel syndrome diagnosis
- Carrier Status: Detection of a single pathogenic mutation indicates carrier status without disease manifestation
- Negative Result: No pathogenic variants detected reduces likelihood of ATRIP-related Seckel syndrome
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
All results include detailed interpretation and recommendations for next steps, with genetic counseling available to help you understand the implications for your health and family planning.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | ATRIP Gene Seckel 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your ATRIP Gene Seckel Syndrome NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Testing Availability
We proudly offer the ATRIP Gene Seckel Syndrome NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve 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 locations nationwide.
Take the Next Step Toward Genetic Clarity
If you or your loved one exhibits symptoms suggestive of Seckel syndrome, don’t delay in seeking definitive answers. Our comprehensive ATRIP Gene Seckel Syndrome NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our genetic specialists are available to discuss your concerns and guide you through the testing process.
Book your ATRIP Gene Seckel Syndrome NGS Genetic DNA Test today by calling our dedicated genetic testing line at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health journey with confidence and expert guidance.
