TRIM37 Gene Mulibrey Nanism NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Growth Disorder
The TRIM37 Gene Mulibrey Nanism NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the TRIM37 gene, which is responsible for Mulibrey Nanism (Muscle-Liver-Brain-Eye Nanism). This rare autosomal recessive disorder affects multiple organ systems and requires specialized genetic testing for accurate diagnosis and management.
What Does This Test Measure?
This advanced next-generation sequencing (NGS) test specifically analyzes the TRIM37 gene located on chromosome 17q22-q23. The test detects:
- Point mutations in the TRIM37 gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations that may disrupt normal gene expression
- Pathogenic variants associated with Mulibrey Nanism development
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with characteristic symptoms of Mulibrey Nanism, including:
- Severe prenatal and postnatal growth restriction
- Distinctive facial features (triangular face, high forehead)
- Progressive cardiomyopathy and pericardial constriction
- Hepatomegaly and other liver abnormalities
- Ocular abnormalities including retinal changes
- Muscle weakness and developmental delays
- Family history of similar symptoms or consanguineous parents
Clinical Benefits of Early Detection
Early diagnosis through TRIM37 genetic testing provides numerous advantages:
- Enables proactive cardiac monitoring and intervention
- Facilitates appropriate growth hormone therapy planning
- Provides accurate genetic counseling for family members
- Helps establish proper developmental support systems
- Allows for informed reproductive decision-making
- Reduces diagnostic uncertainty and medical odyssey
Understanding Your Test Results
Our comprehensive genetic counseling services help interpret your results:
- Positive Result: Confirms diagnosis of Mulibrey Nanism, enabling targeted medical management
- Negative Result: Suggests alternative diagnoses should be considered for similar symptoms
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for reproductive planning and family screening
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| TRIM37 Gene Mulibrey Nanism NGS Genetic DNA Test – Discount Price | $500 |
| TRIM37 Gene Mulibrey Nanism NGS Genetic DNA Test – Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Pediatrics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
Nationwide Testing Availability
We have diagnostic centers across major US cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services throughout the United States.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about rare genetic conditions delay proper care. Our TRIM37 Gene Mulibrey Nanism NGS Genetic DNA Test provides the clarity needed for effective medical management. Contact our genetic specialists today to schedule your test and begin your journey toward accurate diagnosis and personalized treatment planning.
Book Your Test Today: Call or WhatsApp +1(267) 388-9828
Our experienced genetic counselors are available to discuss your testing options, answer questions about the TRIM37 gene analysis, and help you understand how this advanced genetic test can provide crucial insights for managing Mulibrey Nanism and related conditions.
