DYNC2H1 Gene Short-Rib Thoracic Dysplasia Type 3 with or without Polydactyly NGS Genetic DNA Test
Comprehensive Genetic Testing for Skeletal Dysplasia Conditions
The DYNC2H1 Gene Short-Rib Thoracic Dysplasia Type 3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with skeletal dysplasia disorders. This specialized test utilizes next-generation sequencing technology to provide comprehensive analysis of the DYNC2H1 gene, which plays a critical role in ciliary function and skeletal development. Early and accurate diagnosis through this test enables proper medical management and informed family planning decisions.
What This Advanced Genetic Test Detects
Our DYNC2H1 genetic test specifically identifies mutations and variants in the DYNC2H1 gene that are responsible for Short-Rib Thoracic Dysplasia Type 3 (SRTD3). This condition belongs to the ciliopathy spectrum of disorders and is characterized by:
- Mutations in the DYNC2H1 gene affecting cytoplasmic dynein 2 heavy chain 1
- Abnormalities in intraflagellar transport within primary cilia
- Disrupted skeletal patterning and bone development
- Potential autosomal recessive inheritance patterns
Who Should Consider DYNC2H1 Genetic Testing
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of skeletal dysplasia, including:
- Newborns or children with narrow thoracic cage and shortened ribs
- Individuals with polydactyly (extra fingers or toes)
- Patients with disproportionate short stature and limb shortening
- Those with family history of skeletal dysplasia or consanguineous parents
- Prenatal cases showing skeletal abnormalities on ultrasound
- Individuals with respiratory difficulties due to restricted chest development
Key Clinical Symptoms and Indications
The DYNC2H1 gene test is particularly indicated when patients exhibit:
- Shortened ribs leading to narrow thorax and respiratory compromise
- Polydactyly (pre- or postaxial) in hands or feet
- Short limbs with normal trunk length
- Pelvic abnormalities and flattened vertebral bodies
- Possible involvement of other organ systems including renal, hepatic, or retinal abnormalities
Significant Benefits of DYNC2H1 Genetic Testing
Choosing our comprehensive DYNC2H1 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Precise identification of DYNC2H1 mutations enables definitive diagnosis
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Management: Enables targeted medical care and appropriate interventions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely medical and surgical management strategies
- Genetic Confirmation: Eliminates diagnostic uncertainty and enables proper classification
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the DYNC2H1 gene consistent with Short-Rib Thoracic Dysplasia Type 3. This confirmation enables:
- Definitive diagnosis and appropriate medical management
- Genetic counseling for family members and recurrence risk assessment
- Implementation of specialized care protocols for skeletal dysplasia
- Coordination with multidisciplinary medical teams
Negative Result Interpretation
A negative result suggests that no pathogenic DYNC2H1 mutations were detected. However, this may indicate:
- Possible mutations in other genes associated with similar phenotypes
- Need for additional genetic testing if clinical suspicion remains high
- Consideration of other skeletal dysplasia conditions
- Continued clinical monitoring as appropriate
Variant of Uncertain Significance (VUS)
When variants of uncertain significance are identified, our genetic counseling team provides:
- Detailed explanation of the variant’s potential implications
- Recommendations for family studies when appropriate
- Guidance on ongoing research and potential reclassification
- Interim management recommendations based on clinical presentation
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | DYNC2H1 Gene Short-Rib Thoracic Dysplasia Type 3 with or without Polydactyly 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 |
| Specialty | Pediatrics, Genetics, Dysmorphology |
Pre-Test Requirements and Genetic Counseling
Before undergoing DYNC2H1 genetic testing, we provide comprehensive pre-test preparation:
- Clinical History Documentation: Complete medical history of the patient including skeletal abnormalities and developmental milestones
- Genetic Counseling Session: Mandatory pre-test counseling to discuss test implications, limitations, and potential outcomes
- Family Pedigree Analysis: Detailed family history documentation to identify inheritance patterns and affected relatives
- Informed Consent: Thorough discussion of benefits, risks, and alternatives to genetic testing
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, Charlotte, Seattle, Denver, and Washington D.C. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay proper medical care. Our DYNC2H1 genetic test provides the definitive answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing with confidence.
Ready to schedule your test or have questions? Our genetic specialists are available to discuss your specific situation and guide you through the testing process.
Call us today at +1(267) 388-9828 to speak with a genetic counselor or schedule your appointment. You can also reach us via WhatsApp for immediate assistance and to begin your journey toward genetic clarity and improved medical management.
Take control of your genetic health with the precision and expertise of General Genetics Corporation – your trusted partner in advanced genetic diagnostics.
