SMARCAL1 Gene Schimke Immunoosseous Dysplasia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Immune and Bone Disorders
The SMARCAL1 Gene Schimke Immunoosseous Dysplasia NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the SMARCAL1 gene, which are responsible for Schimke immunoosseous dysplasia (SIOD). This comprehensive genetic analysis utilizes Next-Generation Sequencing technology to provide precise, reliable results that can significantly impact patient care and family planning decisions.
What This Test Measures and Detects
This specialized genetic test specifically targets the SMARCAL1 gene located on chromosome 2q35, which encodes a DNA-dependent ATPase involved in chromatin remodeling. The test identifies:
- Pathogenic variants and mutations in the SMARCAL1 gene
- Single nucleotide polymorphisms (SNPs) associated with SIOD
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations in autosomal recessive inheritance patterns
- Novel genetic variants that may contribute to disease manifestation
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Children with disproportionate short stature and growth retardation
- Patients exhibiting spondyloepiphyseal dysplasia with vertebral abnormalities
- Individuals with T-cell immunodeficiency and recurrent infections
- Patients showing progressive renal dysfunction or nephrotic syndrome
- Those with facial dysmorphism including a triangular face and prominent ears
- Individuals with hyperpigmented macules or skin abnormalities
- Patients with cerebrovascular complications or strokes
- Family members of individuals diagnosed with SIOD
Clinical Benefits of SMARCAL1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Schimke immunoosseous dysplasia with high precision
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Disease Monitoring: Helps establish appropriate surveillance protocols for affected individuals
- Research Contribution: Contributes to the growing understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your SMARCAL1 gene analysis:
- Positive Result: Indicates the presence of pathogenic mutations consistent with SIOD diagnosis
- Negative Result: Suggests absence of known disease-causing variants in the SMARCAL1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications
- Carrier Status: Detects individuals with single mutation copies who may pass the condition to offspring
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists. We strongly recommend discussing your results with a qualified genetic counselor to fully understand the implications for your health and family.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your health decisions. Our SMARCAL1 Gene Schimke Immunoosseous Dysplasia NGS Genetic DNA Test provides the definitive answers you need for informed medical care and family planning. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and precision.
