POMK Gene Muscle-Eye-Brain Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The POMK Gene Muscle-Eye-Brain Disease NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method utilizes next-generation sequencing technology to analyze the POMK gene, which plays a critical role in muscle, eye, and brain development. When mutations occur in this gene, they can lead to a spectrum of neurological conditions characterized by muscle weakness, vision impairment, and cognitive challenges.
What Does This Test Measure?
This comprehensive genetic test specifically targets and analyzes the POMK (Protein O-Mannose Kinase) gene using cutting-edge NGS technology. The test detects:
- Point mutations and single nucleotide variants in the POMK gene
- Small insertions and deletions affecting gene function
- Copy number variations that may impact protein expression
- Pathogenic variants associated with muscle-eye-brain disease spectrum
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Progressive muscle weakness and hypotonia from infancy
- Congenital eye abnormalities including retinal dysplasia
- Developmental delays and cognitive impairment
- Structural brain abnormalities visible on MRI
- Family history of similar neurological symptoms
- Unexplained combination of muscle, eye, and brain symptoms
Key Benefits of POMK Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of muscle-eye-brain disease
- Early Intervention: Enables timely management strategies and treatment planning
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Helps tailor medical management to specific genetic findings
- Prognostic Information: Provides insights into disease progression and expected outcomes
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists. Results typically fall into three categories:
- Positive Result: Indicates the presence of a known pathogenic variant in the POMK gene, confirming the diagnosis
- Negative Result: No pathogenic variants detected, though clinical correlation remains important
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | POMK Gene Muscle-Eye-Brain Disease 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 |
Nationwide Testing Availability
GGC DNA has testing facilities conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible genetic testing services for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our team of genetic specialists and neurologists is ready to help you understand your genetic profile and provide personalized guidance. Early genetic testing can make a significant difference in managing symptoms and planning appropriate care.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your POMK genetic test consultation. Our genetic counselors are available to answer your questions and help you take the first step toward genetic clarity and improved health management.
