SLC35D1 Gene Schneckenbecken Dysplasia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Dysplasia
The SLC35D1 Gene Schneckenbecken Dysplasia NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal disorders. Schneckenbecken dysplasia is an extremely rare, lethal skeletal dysplasia characterized by severe short-limbed dwarfism and distinctive pelvic abnormalities. This advanced genetic test utilizes next-generation sequencing technology to provide accurate detection of mutations in the SLC35D1 gene, enabling precise diagnosis and informed medical decision-making.
What Does This Test Measure?
This comprehensive genetic test specifically targets the SLC35D1 gene, which encodes a nucleotide sugar transporter essential for proper glycosylation processes in cartilage and bone development. The test detects:
- Pathogenic variants and mutations in the SLC35D1 gene
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertions, deletions, and frameshift mutations
- Copy number variations impacting gene expression
- Autosomal recessive inheritance patterns
Who Should Consider This Test?
This genetic test is recommended for individuals and families experiencing:
- Abnormal prenatal ultrasound findings showing skeletal abnormalities
- Family history of skeletal dysplasia or short-limbed dwarfism
- Previous pregnancies affected by lethal skeletal disorders
- Clinical features including severe micromelia and narrow thorax
- Distinctive “snail-like” pelvic bone malformations
- Consanguineous parent relationships increasing genetic risk
- Unexplained neonatal skeletal abnormalities
Clinical Benefits of Genetic Testing
Undergoing the SLC35D1 gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Schneckenbecken dysplasia with high precision
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Prenatal Management: Assists in pregnancy management and delivery planning
- Differential Diagnosis: Helps distinguish from other skeletal dysplasias
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates presence of pathogenic SLC35D1 mutations confirming Schneckenbecken dysplasia diagnosis
- Negative Result: Suggests absence of detectable mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals carrying one copy of mutated gene without disease manifestation
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC35D1 Gene Schneckenbecken Dysplasia 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 scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session for comprehensive family pedigree analysis
- Discussion of test implications and potential outcomes
- Informed consent process completion
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal dysplasia affect your family’s future. Our expert genetic counselors and cutting-edge NGS technology provide the answers you need for informed medical decisions. Schedule your SLC35D1 genetic test today and gain the clarity necessary for proper diagnosis and family planning.
Call or WhatsApp us now at +1(267) 388-9828 to book your comprehensive genetic analysis. Our dedicated genetic specialists are ready to assist you with scheduling, insurance questions, and any concerns about the testing process.
