WS1 Full Gene Sequence Analysis for Wolfram Syndrome (DIDMOAD)
Comprehensive Genetic Testing for Wolfram Syndrome
The WS1 Full Gene Sequence Analysis represents a cutting-edge diagnostic approach for identifying Wolfram Syndrome, a rare autosomal recessive neurodegenerative disorder also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). This comprehensive genetic test utilizes advanced Next-Generation Sequencing (NGS) technology to thoroughly examine the WFS1 gene, providing crucial insights for patients and families affected by this complex condition.
What Does the WS1 Full Gene Sequence Analysis Detect?
This sophisticated genetic test specifically targets the WFS1 gene located on chromosome 4p16.1, which encodes wolframin, a transmembrane protein primarily expressed in the endoplasmic reticulum. The test detects:
- Pathogenic mutations in the WFS1 gene coding regions
- Missense, nonsense, frameshift, and splice-site variants
- Large deletions and duplications affecting gene function
- Both homozygous and compound heterozygous mutations
- Novel variants with potential clinical significance
Who Should Consider WS1 Genetic Testing?
This test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Early-onset diabetes mellitus (typically before age 16)
- Progressive optic atrophy leading to vision loss
- Sensorineural hearing impairment
- Diabetes insipidus symptoms (excessive thirst and urination)
- Neurological manifestations including ataxia, seizures, or cognitive decline
- Family history of Wolfram Syndrome or related symptoms
- Unexplained combination of endocrine and neurological symptoms
- Couples with family history planning pregnancy
Key Benefits of WS1 Genetic Testing
Undergoing WS1 Full Gene Sequence Analysis provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out Wolfram Syndrome with high accuracy
- Early Intervention: Enables proactive management of associated conditions
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on specific mutation types
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your WS1 Full Gene Sequence Analysis results will be carefully interpreted by our team of genetic specialists:
- Positive Result: Indicates the presence of pathogenic mutations in the WFS1 gene, confirming Wolfram Syndrome diagnosis
- Negative Result: Suggests no disease-causing mutations were detected, though clinical correlation is essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with single mutation copies who may pass the condition to offspring
All results include comprehensive interpretation and recommendations for next steps, including genetic counseling and specialized medical management.
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| WS1 Full Gene Sequence Analysis for Wolfram Syndrome (DIDMOAD) | $1200 USD | $900 USD |
Nationwide Testing Availability
GGC DNA offers comprehensive WS1 genetic testing services across the United States, with convenient testing centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure accurate sample collection and processing.
Sample Requirements and Processing
Turnaround Time: 4-6 weeks
Sample Types: Peripheral blood, Amniotic Fluid, Chorionic villi, Cord blood
Test Components: Sterile container, Sterile Normal Saline Container, EDTA Vacutainer (2ml)
Pre-test Instructions: WS1 Full Gene Sequence Analysis requires a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Take Control of Your Genetic Health Today
Don’t let uncertainty about Wolfram Syndrome affect your quality of life. Our comprehensive WS1 Full Gene Sequence Analysis provides the clarity you need for informed healthcare decisions. With our discounted price of $900 USD and nationwide availability, accessing advanced genetic testing has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your WS1 genetic test and take the first step toward understanding your genetic health.
