SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for X-Linked Metabolic Disorders
The SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare metabolic conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the SSR4 gene, which plays a critical role in protein glycosylation processes essential for normal cellular function and development.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the SSR4 gene located on the X chromosome, examining it for pathogenic variants that disrupt the signal sequence receptor complex. The test identifies:
- Point mutations and small insertions/deletions in the SSR4 gene
- X-linked inheritance patterns affecting glycosylation pathways
- Genetic markers associated with congenital disorders of glycosylation type I
- Variants impacting protein translocation and modification processes
Who Should Consider This Test
This genetic screening is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures and developmental regression
- Failure to thrive in infancy with feeding difficulties
- Abnormal liver function tests and coagulopathy
- Family history of X-linked metabolic disorders
- Multiple congenital anomalies with suspected genetic etiology
- Abnormal serum transferrin isoelectric focusing patterns
Clinical Benefits of SSR4 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of SSR4 gene mutations enables definitive diagnosis
- Personalized Treatment: Results guide targeted therapeutic interventions and management strategies
- Family Planning: Essential information for genetic counseling and reproductive decision-making
- Prognostic Insights: Understanding disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive care measures
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your SSR4 gene analysis:
- Positive Result: Identification of pathogenic variants confirms diagnosis of X-linked glycosylation disorder
- Negative Result: No detected mutations in the SSR4 gene, though other genetic causes may require investigation
- Variant of Uncertain Significance: Genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Important information for female relatives regarding X-linked inheritance patterns
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic DNA Test – Discount Price | $500 |
| SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have established testing facilities across all major metropolitan areas in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our comprehensive network ensures accessible genetic testing services regardless of your location.
Pre-Test Requirements
Prior to testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
Sample Collection and Processing
Our test accepts multiple sample types for your convenience:
- Blood samples collected in EDTA tubes
- Extracted DNA meeting quality specifications
- One drop of blood on FTA card for simplified collection
Turnaround Time: 3 to 4 weeks from sample receipt
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic metabolic disorders impact your health decisions. Our SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic DNA Test provides the clarity you need for informed medical management and family planning. With our discounted price of $500 USD and nationwide availability, comprehensive genetic testing has never been more accessible.
Call +1(267) 388-9828 now to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
