SKIV2L Gene Trichohepatoenteric Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Multisystem Disorders
The SKIV2L Gene Trichohepatoenteric Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals and families affected by rare genetic conditions. This advanced genetic analysis specifically targets mutations in the SKIV2L gene, which plays a critical role in RNA processing and cellular function. Trichohepatoenteric Syndrome Type 2 is an autosomal recessive disorder characterized by distinctive hair abnormalities, liver complications, and severe gastrointestinal issues that typically manifest in early childhood.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test provides detailed analysis of the SKIV2L gene to identify pathogenic variants associated with Trichohepatoenteric Syndrome Type 2. The test specifically examines:
- Complete sequencing of the SKIV2L gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of compound heterozygous mutations
- Analysis of splice site variants affecting gene function
- Comprehensive variant classification according to ACMG guidelines
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of Trichohepatoenteric Syndrome Type 2, including:
- Infants and children with unexplained failure to thrive
- Individuals with distinctive woolly, brittle, or sparse hair (trichorrhexis nodosa)
- Patients experiencing chronic diarrhea and malabsorption
- Children with elevated liver enzymes or hepatomegaly
- Individuals with facial dysmorphism and developmental delays
- Patients with recurrent infections due to immune dysfunction
- Families with a history of consanguinity or similar symptoms
Clinical Benefits of Genetic Testing
Early and accurate genetic diagnosis through our SKIV2L gene test provides numerous clinical advantages:
- Precise Diagnosis: Confirms or rules out Trichohepatoenteric Syndrome Type 2 with high accuracy
- Personalized Treatment: Enables targeted management strategies for gastrointestinal, hepatic, and dermatological symptoms
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insight: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely nutritional support and medical management
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your SKIV2L gene analysis:
- Positive Result: Identifies pathogenic mutations confirming Trichohepatoenteric Syndrome Type 2 diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
All results include detailed clinical implications and recommendations for follow-up care with genetic specialists.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SKIV2L Gene Trichohepatoenteric Syndrome Type 2 NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations 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 testing facilities ensures accessible, reliable testing for families nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic health conditions affect your family’s future. Our SKIV2L Gene Trichohepatoenteric Syndrome Type 2 NGS Genetic DNA Test provides the answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing convenient and accessible for every family seeking answers about rare genetic disorders.
