PTDSS1 Gene Lenz-Majewski Hyperostotic Dwarfism NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skeletal Disorders
The PTDSS1 Gene Lenz-Majewski Hyperostotic Dwarfism NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal dysplasias. This advanced test utilizes next-generation sequencing technology to identify mutations in the PTDSS1 gene, which is responsible for Lenz-Majewski hyperostotic dwarfism – an extremely rare genetic condition affecting bone development and growth.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the PTDSS1 gene, which encodes phosphatidylserine synthase 1 – a crucial enzyme in phospholipid metabolism. The test detects:
- Point mutations in the PTDSS1 gene
- Small insertions and deletions affecting gene function
- Missense mutations that alter protein structure
- Nonsense mutations leading to premature stop codons
- Splice site variants affecting RNA processing
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Progressive skeletal hyperostosis and sclerosis
- Short stature with disproportionate dwarfism
- Distinctive facial features including prominent forehead and widely spaced eyes
- Cutis laxa (loose, sagging skin)
- Developmental delays and intellectual disability
- Dental abnormalities and delayed tooth eruption
- Family history of similar skeletal abnormalities
- Unexplained bone density abnormalities
Benefits of PTDSS1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms Lenz-Majewski hyperostotic dwarfism with high precision
- Personalized Treatment Planning: Guides appropriate medical management strategies
- Family Planning Guidance: Informs reproductive decisions and genetic counseling
- Early Intervention: Enables proactive management of potential complications
- Differential Diagnosis: Helps distinguish from other skeletal dysplasias
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic counselors provide comprehensive interpretation of your results:
- Positive Result: Confirms PTDSS1 gene mutation and diagnosis of Lenz-Majewski hyperostotic dwarfism
- Negative Result: Suggests alternative diagnoses should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members and reproductive planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PTDSS1 Gene Lenz-Majewski Hyperostotic Dwarfism 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 testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Informed consent for genetic testing
Nationwide Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Diagnosis
If you or a family member are experiencing symptoms suggestive of Lenz-Majewski hyperostotic dwarfism, don’t delay in seeking genetic answers. Our specialized genetic testing provides the clarity needed for proper diagnosis and management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the PTDSS1 Gene Lenz-Majewski Hyperostotic Dwarfism NGS Genetic DNA Test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
