MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 NGS Genetic DNA Test
Understanding Lethal Congenital Contracture Syndrome Type 4
Lethal Congenital Contracture Syndrome Type 4 (LCCS4) is a rare, severe genetic disorder affecting fetal development and characterized by multiple joint contractures, fetal akinesia, and pulmonary hypoplasia. This condition is caused by mutations in the MYBPC1 gene, which encodes myosin-binding protein C, slow type, playing a crucial role in muscle development and function.
What Does This Test Measure?
Our advanced NGS Genetic DNA Test specifically analyzes the MYBPC1 gene to identify pathogenic variants associated with Lethal Congenital Contracture Syndrome Type 4. The test utilizes Next-Generation Sequencing technology to provide comprehensive coverage of the entire MYBPC1 gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Pathogenic sequence changes affecting protein function
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals and families experiencing:
- Family history of lethal congenital contracture syndromes
- Recurrent pregnancy loss with fetal akinesia
- Prenatal ultrasound findings showing multiple joint contractures
- Fetal akinesia deformation sequence
- History of arthrogryposis multiplex congenita in family members
- Couples planning pregnancy with known family history of MYBPC1 mutations
Benefits of MYBPC1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out MYBPC1-related disorders with high precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk couples
- Prenatal Diagnosis: Allows early detection during pregnancy for proper management
- Genetic Counseling: Provides basis for personalized genetic counseling sessions
- Medical Management: Guides appropriate medical care and intervention strategies
- Research Contribution: Helps advance understanding of rare genetic disorders
Test Specifications and Requirements
Sample Collection
We accept multiple sample types for your convenience:
- Blood sample (standard venipuncture)
- Extracted DNA
- One drop of blood on FTA card
Turnaround Time
Results are typically available within 3 to 4 weeks from sample receipt.
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session
- Development of family pedigree chart
- Discussion of testing implications and potential outcomes
Understanding Your Test Results
Your genetic test report will provide clear, comprehensive information:
- Positive Result: Indicates the presence of a pathogenic MYBPC1 mutation. This confirms the diagnosis of Lethal Congenital Contracture Syndrome Type 4 and provides crucial information for medical management and family planning.
- Negative Result: No pathogenic mutations detected in the MYBPC1 gene. This significantly reduces the likelihood of LCCS4, though other genetic causes should be considered if clinical symptoms persist.
- Variant of Uncertain Significance (VUS): A genetic change with unknown clinical significance. Further family studies or research may be recommended.
Test Pricing Information
| Test Description | Regular Price | Discount Price |
|---|---|---|
| MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We have testing facilities and collection centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more locations. Our network ensures convenient access to genetic testing services regardless of your location.
Take Action Today
Don’t wait to get the answers you need for your family’s health. Our genetic specialists are ready to assist you with comprehensive testing and counseling services. Early detection and proper genetic counseling can make a significant difference in managing genetic conditions and planning for the future.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and book your MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 NGS Genetic DNA Test. Our team of genetic counselors and medical professionals will guide you through the testing process and help you understand your results.
