ERCC8 Gene Cockayne Syndrome Type A NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The ERCC8 Gene Cockayne Syndrome Type A NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions affecting neurological development and cellular repair mechanisms. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the ERCC8 gene, which plays a critical role in transcription-coupled nucleotide excision repair (TC-NER) pathways. When this gene malfunctions, it leads to Cockayne syndrome type A, a devastating condition characterized by progressive neurological deterioration, growth failure, and premature aging symptoms.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the ERCC8 gene located on chromosome 5q12.1, which encodes the CSA protein essential for DNA damage repair. The test detects:
- Pathogenic variants including missense, nonsense, and frameshift mutations
- Small insertions and deletions affecting gene function
- Splice site mutations that disrupt protein production
- Copy number variations and larger genomic rearrangements
- Autosomal recessive inheritance patterns
The NGS methodology provides unparalleled accuracy in identifying even subtle genetic alterations that conventional testing might miss, ensuring comprehensive coverage of the entire ERCC8 gene coding region and critical flanking sequences.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Cockayne syndrome or related DNA repair disorders:
- Infants and children with progressive neurological deterioration
- Patients exhibiting severe photosensitivity and skin abnormalities
- Individuals with growth failure and developmental delay
- Patients showing characteristic facial features including microcephaly, sunken eyes, and thin nose
- Those with hearing loss, vision problems, or dental abnormalities
- Family members of diagnosed individuals for carrier testing
- Couples with family history of Cockayne syndrome planning pregnancy
Clinical Benefits of Early Genetic Diagnosis
Obtaining a definitive genetic diagnosis through this test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms Cockayne syndrome type A, distinguishing it from similar conditions
- Proactive Management: Enables early intervention strategies for symptom management
- Genetic Counseling: Provides families with inheritance patterns and recurrence risks
- Treatment Guidance: Informs appropriate therapeutic approaches and supportive care
- Family Planning: Assists in reproductive decision-making for at-risk couples
- Research Participation: Qualifies patients for clinical trials and emerging therapies
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Identifies pathogenic mutations in both ERCC8 gene copies, confirming Cockayne syndrome type A diagnosis
- Carrier Status: Detection of a single mutated copy indicates carrier status without disease manifestation
- Negative Result: No pathogenic variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
Our genetic counseling team provides comprehensive post-test guidance, helping you understand the implications of your results and connecting you with appropriate medical specialists for ongoing care.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ERCC8 Gene Cockayne Syndrome Type A NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty Department | Pediatric Genetics |
Pre-Test Requirements and Preparation
To ensure optimal testing conditions and accurate results, please note the following requirements:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Identification of family members affected by similar symptoms
- Informed consent for genetic testing and potential implications
- Insurance pre-authorization when applicable
Nationwide Accessibility and Convenience
We maintain comprehensive testing facilities across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other locations. Our network ensures convenient access to advanced genetic testing regardless of your geographic location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our dedicated team of genetic specialists, pediatric neurologists, and certified counselors are ready to support you through every step of the testing process. With rapid turnaround times and comprehensive result interpretation, we provide the clarity needed for informed medical decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the ERCC8 Gene Cockayne Syndrome Type A NGS Genetic DNA Test. Early diagnosis can make a significant difference in managing this complex condition and improving quality of life outcomes.
