SRD5A3 Gene Congenital Disorder of Glycosylation Type Iq NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The SRD5A3 Gene Congenital Disorder of Glycosylation Type Iq NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare metabolic conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the SRD5A3 gene, which plays a critical role in the dolichol-phosphate-mannose synthesis pathway essential for proper protein glycosylation.
What This Test Measures and Detects
Our specialized NGS genetic test specifically targets:
- Comprehensive sequencing of the SRD5A3 gene for pathogenic variants
- Detection of mutations affecting dolichol-phosphate-mannose synthase activity
- Identification of genetic abnormalities disrupting N-glycosylation pathways
- Analysis of both coding and non-coding regions for comprehensive coverage
- Detection of novel variants through advanced bioinformatics analysis
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures, hypotonia, or ataxia
- Abnormal fat distribution and distinctive facial features
- Ocular abnormalities such as strabismus or retinal dystrophy
- Coagulation disorders and liver function abnormalities
- Family history of congenital disorders of glycosylation
- Unexplained multisystem involvement with metabolic symptoms
Significant Benefits of Genetic Testing
Undergoing the SRD5A3 genetic test provides numerous advantages:
- Accurate Diagnosis: Precise identification of the underlying genetic cause enables targeted treatment approaches
- Early Intervention: Timely detection allows for proactive management strategies to improve outcomes
- Family Planning: Genetic counseling based on test results supports informed reproductive decisions
- Personalized Care: Test findings guide the development of individualized treatment protocols
- Prognostic Information: Understanding the specific genetic variant helps predict disease progression
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates the presence of pathogenic SRD5A3 variants, confirming congenital disorder of glycosylation type Iq diagnosis
- Negative Result: Suggests absence of known pathogenic variants in the SRD5A3 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with specialized genetic centers in:
- New York City, NY – Advanced Genetic Diagnostics Center
- Los Angeles, CA – West Coast Metabolic Institute
- Chicago, IL – Midwest Genetic Medicine Center
- Houston, TX – Southern Genetic Health Center
- Phoenix, AZ – Southwest Metabolic Genetics
- Philadelphia, PA – Northeast Genetic Specialists
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our SRD5A3 Gene Congenital Disorder of Glycosylation Type Iq NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood drops, getting tested has never been more convenient.
Schedule your genetic counseling session and book your test today by calling our dedicated genetic specialists at +1(267) 388-9828. Early diagnosis leads to better outcomes – take the first step toward understanding your genetic health.
