ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Neurological Disorder
The ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ERCC6 gene, which is responsible for this rare autosomal recessive disorder. De Sanctis-Cacchione syndrome is characterized by a complex combination of neurological abnormalities, photosensitivity, and developmental challenges that significantly impact quality of life. Our advanced genetic testing provides definitive answers for patients and families affected by this condition.
What This Test Measures and Detects
This comprehensive genetic analysis utilizes next-generation sequencing (NGS) technology to examine the entire ERCC6 gene for pathogenic variants. The test specifically identifies:
- Point mutations, deletions, and insertions in the ERCC6 gene
- Autosomal recessive inheritance patterns
- Genetic variants associated with nucleotide excision repair defects
- Mutations causing xeroderma pigmentosum neurological complications
- Specific genetic markers linked to progressive neurological deterioration
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with the following symptoms and clinical indications:
- Progressive neurological deterioration beginning in childhood
- Severe photosensitivity and skin abnormalities
- Microcephaly and developmental delays
- Intellectual disability and cognitive impairment
- Family history of similar neurological and dermatological conditions
- Unexplained progressive ataxia and movement disorders
- Suspected xeroderma pigmentosum with neurological involvement
- Consanguineous family backgrounds with similar symptoms
Significant Benefits of Genetic Testing
Undergoing the ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Provides definitive confirmation of De Sanctis-Cacchione syndrome
- Personalized Treatment: Enables targeted management strategies for neurological symptoms
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of protective measures against sun exposure
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing medical research on 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 ERCC6 mutations, confirming De Sanctis-Cacchione syndrome diagnosis
- Negative Result: Suggests absence of known ERCC6 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if individuals carry one copy of the mutated gene without showing symptoms
All results are accompanied by detailed interpretation from our certified genetic counselors, who provide personalized guidance on next steps and management strategies.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our comprehensive network ensures accessible genetic testing services for patients nationwide.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of De Sanctis-Cacchione syndrome, don’t wait to get answers. Our expert genetic counseling team is available to discuss your concerns and guide you through the testing process. Early diagnosis can significantly impact treatment outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test. Take control of your genetic health with our comprehensive testing services.
