MOCS2 Gene Molybdenum Cofactor Deficiency Type B NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Metabolic Disorders
The MOCS2 Gene Molybdenum Cofactor Deficiency Type B NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying one of medicine’s most challenging inherited metabolic conditions. Molybdenum cofactor deficiency type B is an autosomal recessive disorder characterized by the body’s inability to properly synthesize the molybdenum cofactor, an essential component for several crucial enzymes including sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase.
What This Advanced Test Measures
Our comprehensive NGS-based genetic test specifically targets the MOCS2 gene, which encodes molybdenum cofactor synthesis protein 2. This protein plays a vital role in the second step of molybdenum cofactor biosynthesis, converting precursor Z to molybdopterin. The test detects:
- Point mutations in the MOCS2 gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations impacting gene dosage
- Splice site mutations that disrupt proper protein production
Who Should Consider MOCS2 Genetic Testing?
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with:
- Unexplained neonatal seizures that are difficult to control
- Progressive neurological deterioration in infancy
- Developmental delays and intellectual disability
- Feeding difficulties and failure to thrive
- Abnormal muscle tone (hypotonia or hypertonia)
- Characteristic facial features associated with metabolic disorders
- Family history of molybdenum cofactor deficiency
- Elevated urinary sulfite levels or other metabolic abnormalities
Significant Benefits of Early Detection
Early diagnosis through MOCS2 genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of symptoms
- Family Planning: Enables informed reproductive decisions for carriers
- Treatment Guidance: Helps direct appropriate management strategies
- Prognostic Information: Provides insight into disease progression
- Genetic Counseling: Supports families in understanding inheritance patterns
- Research Contribution: Advances understanding of rare metabolic diseases
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic variants confirming diagnosis
- Negative Result: No disease-causing variants detected in MOCS2 gene
- Variant of Uncertain Significance: Requires additional family studies
- Carrier Status: Identifies individuals with one mutated copy
All results are accompanied by detailed explanations and recommendations for next steps. Our genetic counselors are available to help you understand the implications of your test results and discuss appropriate management options.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | MOCS2 Gene Molybdenum Cofactor Deficiency Type B NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart of family members affected with molybdenum cofactor deficiency
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing 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 genetic counselors and healthcare professionals ensures you receive the highest quality care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our MOCS2 Gene Molybdenum Cofactor Deficiency Type B NGS Genetic DNA Test provides the answers you need to make informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling included, you can access world-class genetic testing without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is standing by to answer your questions and guide you through the testing process.
