CISD2 Gene Wolfram Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Wolfram Syndrome Type 2
The CISD2 Gene Wolfram Syndrome Type 2 NGS Genetic DNA Test represents a significant advancement in genetic diagnostics for rare inherited disorders. This specialized test focuses on identifying mutations in the CISD2 gene, which is directly responsible for Wolfram Syndrome Type 2 – a complex autosomal recessive condition characterized by multiple system involvement. Our state-of-the-art Next-Generation Sequencing technology provides unparalleled accuracy in detecting genetic variants that contribute to this challenging medical condition.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the CISD2 gene located on chromosome 4q24. The test employs advanced NGS methodology to sequence the entire coding region and flanking intronic regions of the CISD2 gene, enabling detection of:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Compound heterozygous mutations
The CISD2 gene encodes the CDGSH iron-sulfur domain-containing protein 2, which plays a crucial role in mitochondrial function and cellular energy metabolism. Mutations in this gene disrupt normal cellular processes, leading to the characteristic features of Wolfram Syndrome Type 2.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following clinical features:
- Diabetes Insipidus: Patients experiencing excessive thirst and urination not related to diabetes mellitus
- Optic Atrophy: Progressive vision loss beginning in childhood or early adulthood
- Neurological Symptoms: Including ataxia, seizures, or cognitive impairment
- Family History: Individuals with family members diagnosed with Wolfram Syndrome
- Unexplained Multi-system Symptoms: Patients presenting with combinations of endocrine and neurological abnormalities
- Reproductive Planning: Couples with family history seeking genetic counseling
Key Benefits of CISD2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out Wolfram Syndrome Type 2 with high precision
- Early Intervention: Enables proactive management of symptoms and complications
- Personalized Treatment: Guides development of targeted therapeutic approaches
- Family Planning: Provides crucial information for reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Supports informed discussions about inheritance patterns
Understanding Your Test Results
Our comprehensive genetic counseling services ensure you fully understand your test results and their implications:
- Positive Result: Indicates the presence of pathogenic mutations in the CISD2 gene, confirming Wolfram Syndrome Type 2 diagnosis
- Negative Result: Suggests absence of detectable CISD2 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Our genetic specialists provide detailed explanations of results, inheritance patterns, and recommendations for ongoing management and family screening.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | CISD2 Gene Wolfram Syndrome Type 2 NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Pricing | $700 |
| Turnaround Time | Results Delivery | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or FTA Card | – |
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, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your health decisions. Our CISD2 Gene Wolfram Syndrome Type 2 NGS Genetic DNA Test provides the answers you need for informed medical management and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can gain valuable insights into your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Our genetic specialists are ready to guide you through the testing process and help you understand your results with compassion and expertise.
Early genetic testing can make a significant difference in managing Wolfram Syndrome Type 2 and planning for the future. Contact us now to take control of your genetic health journey.
