CDT1 Gene Meier-Gorlin Syndrome Type 4 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Primordial Dwarfism
The CDT1 Gene Meier-Gorlin Syndrome Type 4 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Meier-Gorlin Syndrome Type 4, a rare autosomal recessive disorder characterized by primordial dwarfism. This sophisticated genetic analysis utilizes Next-Generation Sequencing technology to provide comprehensive insights into the CDT1 gene, which plays a crucial role in DNA replication initiation and proper cellular division.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the CDT1 gene, analyzing it for pathogenic variants that disrupt normal DNA replication processes. The test detects:
- Point mutations, insertions, and deletions in the CDT1 gene
- Variants affecting DNA replication licensing factors
- Mutations that impair origin recognition complex function
- Genetic alterations leading to impaired cellular growth and development
- Autosomal recessive inheritance patterns
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following clinical features:
- Severe prenatal and postnatal growth retardation
- Microcephaly (abnormally small head circumference)
- Characteristic facial features including micrognathia and prominent ears
- Skeletal abnormalities and joint contractures
- Developmental delays and intellectual disability
- Family history of primordial dwarfism or consanguineous parents
- Unexplained short stature with disproportionate features
Clinical Benefits of CDT1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Meier-Gorlin Syndrome Type 4 with high precision
- Personalized Management: Enables tailored growth monitoring and developmental support
- Family Planning Guidance: Provides crucial information for reproductive decision-making
- Early Intervention: Facilitates timely implementation of appropriate therapies
- Genetic Counseling: Supports informed discussions about inheritance risks
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and presented in a comprehensive report:
- Positive Result: Indicates the presence of pathogenic CDT1 gene mutations consistent with Meier-Gorlin Syndrome Type 4 diagnosis
- Negative Result: Suggests no detectable mutations in the CDT1 gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without exhibiting symptoms
All results include detailed explanations and recommendations for follow-up care with genetic specialists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with specialized genetic testing centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic diagnostics regardless of your location.
Pre-Test Requirements and Sample Collection
Prior to testing, we require:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Sample collection through blood draw, extracted DNA, or FTA card blood spot
- Turnaround time: 3-4 weeks from sample receipt
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our expert team of genetic counselors and medical specialists is ready to guide you through the testing process and provide comprehensive support for understanding your results.
Schedule your CDT1 Gene Meier-Gorlin Syndrome Type 4 NGS Genetic DNA Test today by calling our dedicated genetics hotline at +1(267) 388-9828 or booking your appointment online. Take control of your genetic health with confidence and precision.
