INPP5E Gene Mental Retardation Truncal Obesity Retinal Dystrophy and Micropenis NGS Genetic DNA Test
Comprehensive Genetic Testing for Complex Neurodevelopmental Disorders
The INPP5E Gene NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Joubert syndrome and related disorders. This specialized genetic test focuses on the INPP5E gene, which plays a critical role in cellular signaling pathways and ciliary function. When mutations occur in this gene, they can lead to a constellation of symptoms including intellectual disability, distinctive physical features, and multi-system involvement that significantly impact quality of life.
What Does the INPP5E Gene Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the INPP5E gene for pathogenic variants. The test specifically detects:
- Point mutations, insertions, and deletions in the INPP5E gene
- Variants associated with Joubert syndrome type 1
- Genetic abnormalities affecting ciliary function and development
- Inheritance patterns for family planning purposes
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or clinical features:
- Developmental delay or intellectual disability of unknown origin
- Truncal obesity with disproportionate fat distribution
- Progressive retinal dystrophy or vision problems
- Micropenis or other genital abnormalities in males
- Characteristic neurological findings including ataxia
- Abnormal eye movements or oculomotor apraxia
- Family history of similar neurodevelopmental conditions
- Unexplained combination of neurological and physical symptoms
Key Benefits of INPP5E Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and their families:
- Accurate Diagnosis: Provides definitive genetic confirmation of Joubert syndrome or related disorders
- Personalized Treatment Planning: Enables targeted interventions based on specific genetic findings
- Family Planning Guidance: Offers crucial information for reproductive decisions and genetic counseling
- Early Intervention Opportunities: Facilitates timely implementation of supportive therapies
- Comprehensive Medical Management: Guides multidisciplinary care approach across specialties
- Prognostic Information: Helps understand potential disease progression and outcomes
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your INPP5E gene test results:
- Positive Result: Indicates the presence of a pathogenic variant in the INPP5E gene, confirming the genetic basis of symptoms
- Negative Result: Suggests that INPP5E mutations are not the cause of the clinical presentation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | INPP5E Gene Mental Retardation Truncal Obesity Retinal Dystrophy and Micropenis NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics, Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart of family members affected with similar conditions
- Comprehensive documentation of symptoms and clinical findings
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or a loved one are experiencing symptoms suggestive of INPP5E-related disorders, don’t wait to get answers. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your INPP5E Gene NGS Genetic DNA Test. Take control of your genetic health with the comprehensive testing solutions from General Genetics Corporation.
