MPDZ Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hydrocephalus
The MPDZ Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 2 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the MPDZ (Multiple PDZ Domain Protein) gene, which plays a critical role in brain development and cerebrospinal fluid dynamics. Hydrocephalus, characterized by excessive accumulation of cerebrospinal fluid in the brain, can lead to severe neurological complications if left undiagnosed. Our comprehensive genetic analysis provides definitive answers for families affected by this condition.
What This Test Detects
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to identify pathogenic variants in the MPDZ gene associated with nonsyndromic autosomal recessive hydrocephalus type 2. The test examines:
- Complete coding regions of the MPDZ gene
- Exon-intron boundaries for splice site mutations
- Copy number variations and structural rearrangements
- Point mutations, insertions, and deletions affecting gene function
Clinical Significance of MPDZ Gene Mutations
The MPDZ gene encodes a scaffolding protein essential for proper brain ventricle development and cerebrospinal fluid regulation. Mutations in this gene disrupt normal ventricular system formation, leading to congenital hydrocephalus. Understanding these genetic alterations provides crucial insights for clinical management and treatment strategies.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Unexplained hydrocephalus in infancy or childhood
- Family history of congenital hydrocephalus
- Neurological symptoms including enlarged head circumference
- Developmental delays associated with ventricular enlargement
- Couples with previous child affected by hydrocephalus
- Individuals from populations with higher incidence of autosomal recessive disorders
Symptoms and Clinical Indicators
Patients may exhibit various symptoms including rapid head growth in infants, vomiting, seizures, sunsetting eyes, developmental delays, and increased intracranial pressure. Early genetic diagnosis enables timely intervention and appropriate medical management.
Benefits of MPDZ Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of hydrocephalus type 2
- Family Planning: Enables informed reproductive decisions for at-risk couples
- Early Intervention: Facilitates timely medical and surgical management
- Genetic Counseling: Supports comprehensive family risk assessment
- Treatment Guidance: Informs personalized treatment approaches
- Prognostic Information: Helps predict disease progression and outcomes
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
Positive Result
A positive result indicates the presence of pathogenic mutations in the MPDZ gene associated with hydrocephalus type 2. This confirmation enables:
- Targeted medical management and treatment planning
- Family member testing and genetic counseling
- Appropriate surveillance and monitoring protocols
- Connection with specialized neurological care teams
Negative Result
A negative result suggests that no pathogenic MPDZ mutations were detected. However, this does not completely rule out hydrocephalus, as other genetic or environmental factors may be involved. Further evaluation may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
If a genetic variant of uncertain significance is identified, our genetic counselors will provide comprehensive guidance regarding clinical implications and recommended follow-up testing.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | MPDZ Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 2 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 | Neurology and Genetics |
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Discussion of testing implications and potential outcomes
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health
Don’t let uncertainty about genetic risks affect your family’s future. Our MPDZ Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 2 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With our advanced NGS technology and expert genetic analysis, you can access comprehensive genetic information to guide your medical journey.
Ready to Schedule Your Test?
Take the first step toward genetic clarity today. Contact our genetic specialists to schedule your test or discuss your testing options. Our team is available to answer your questions and provide the support you need throughout the testing process.
Call us now at +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. We’re here to help you understand your genetic health and make informed decisions for your family’s future.
Alternatively, you can WhatsApp us at the same number for convenient scheduling and quick responses to your inquiries. Our genetic specialists are standing by to assist you with comprehensive genetic testing services.
