TTC37 Gene Trichohepatoenteric Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Multisystem Disorders
The TTC37 Gene Trichohepatoenteric Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the TTC37 gene, which are responsible for Trichohepatoenteric Syndrome Type 1. This rare autosomal recessive disorder affects multiple organ systems and requires precise genetic confirmation for accurate diagnosis and management.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based test specifically targets the TTC37 gene, which encodes the tetratricopeptide repeat domain 37 protein. This protein plays a crucial role in RNA processing and stability, and mutations in this gene disrupt normal cellular functions leading to the characteristic symptoms of Trichohepatoenteric Syndrome Type 1.
- Detection of pathogenic variants in the TTC37 gene
- Identification of single nucleotide variants and small insertions/deletions
- Analysis of coding regions and splice sites
- Comprehensive coverage of all known disease-causing mutations
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following clinical features:
- Hair Abnormalities: Woolly, brittle, or easily pluckable hair
- Gastrointestinal Issues: Chronic diarrhea, intestinal inflammation, or failure to thrive
- Liver Complications: Hepatomegaly, elevated liver enzymes, or liver fibrosis
- Immune System Deficiencies: Recurrent infections or immunological abnormalities
- Family History: Siblings or relatives with similar symptoms
- Developmental Concerns: Growth retardation or developmental delays
Significant Benefits of Genetic Testing
Undergoing the TTC37 Gene Trichohepatoenteric Syndrome Type 1 test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Trichohepatoenteric Syndrome Type 1
- Personalized Treatment: Enables targeted management strategies
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Facilitates timely medical interventions
- Comprehensive Care: Guides multidisciplinary treatment approaches
- Peace of Mind: Reduces diagnostic uncertainty for patients and families
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in the TTC37 gene, confirming the diagnosis of Trichohepatoenteric Syndrome Type 1
- Negative Result: Suggests that TTC37 gene mutations are not detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
Test Details and Pricing
| Test Information | Details |
|---|---|
| Test Name | TTC37 Gene Trichohepatoenteric Syndrome Type 1 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 test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
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 network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your quality of life. Our expert team of genetic counselors and medical professionals are ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your TTC37 Gene Trichohepatoenteric Syndrome Type 1 NGS Genetic DNA Test and take control of your genetic health journey.
Our commitment to excellence in genetic testing ensures you receive the most accurate, reliable results with compassionate care and professional guidance every step of the way.
