AMPD2 Gene Pontocerebellar Hypoplasia Type 9 NGS Genetic DNA Test
Comprehensive Introduction to AMPD2 Genetic Testing
The AMPD2 Gene Pontocerebellar Hypoplasia Type 9 NGS Genetic DNA Test represents a significant advancement in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the AMPD2 gene, which plays a crucial role in brain development and function. Pontocerebellar Hypoplasia Type 9 is a rare autosomal recessive disorder characterized by underdevelopment of specific brain regions, particularly the pons and cerebellum. Early and accurate diagnosis through this test enables healthcare providers to develop targeted treatment strategies and provide families with essential genetic counseling.
What This Test Measures and Detects
Our advanced NGS-based genetic test specifically targets:
- Comprehensive analysis of the AMPD2 gene for pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)
- Identification of both inherited and de novo mutations
- Assessment of genetic markers associated with neurological development
- Evaluation of gene expression patterns related to brain structure formation
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Developmental delays in motor skills and cognitive function
- Microcephaly (abnormally small head size)
- Progressive neurological deterioration
- Abnormal muscle tone and movement disorders
- Family history of Pontocerebellar Hypoplasia or related neurological conditions
- Unexplained seizures or epilepsy in infancy
- Delayed speech and language development
- Visual impairment or optic nerve abnormalities
Significant Benefits of AMPD2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of the underlying genetic cause of neurological symptoms
- Family Planning Guidance: Essential information for genetic counseling and reproductive decisions
- Personalized Treatment: Enables development of targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive therapies
- Research Contribution: Advances scientific understanding of rare neurological disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of pathogenic AMPD2 gene mutations, confirming diagnosis of Pontocerebellar Hypoplasia Type 9
- Negative Result: Suggests absence of detectable mutations in the AMPD2 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results include detailed explanations and recommendations for next steps, including consultation with neurologists and genetic counselors.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
Pre-Test Requirements and Preparation
Before scheduling your test, ensure you have:
- Complete clinical history of the patient
- Genetic counseling session completed
- Family pedigree chart documenting affected relatives
- Referral from a neurologist or genetic specialist
- Informed consent for genetic testing
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our AMPD2 Gene Pontocerebellar Hypoplasia Type 9 NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. Contact our genetic specialists today to schedule your test and begin your journey toward clarity and peace of mind.
Call or WhatsApp us now at +1(267) 388-9828 to book your genetic test appointment!
