GPSM2 Gene Chudley-McCullough Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neurological Disorders
The GPSM2 Gene Chudley-McCullough Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the GPSM2 gene, which are responsible for Chudley-McCullough syndrome. This rare autosomal recessive disorder primarily affects neurological development and hearing function. Our advanced Next-Generation Sequencing technology provides unparalleled accuracy in detecting genetic variants that conventional testing methods might miss.
What This Test Measures and Detects
This specialized genetic test specifically targets the GPSM2 gene located on chromosome 1p13.3, which encodes the G-protein signaling modulator 2 protein. The test identifies:
- Pathogenic variants and mutations in the GPSM2 gene
- Single nucleotide polymorphisms (SNPs) associated with disease manifestation
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations that characterize autosomal recessive inheritance
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Congenital sensorineural hearing loss, especially bilateral cases
- Structural brain abnormalities detected on MRI, including ventriculomegaly
- Developmental delays in motor and cognitive functions
- Family history of Chudley-McCullough syndrome or similar neurological conditions
- Corpus callosum dysgenesis or agenesis
- Polymicrogyria or other cortical malformations
- Parents planning pregnancy with known family history of GPSM2-related disorders
Significant Benefits of Genetic Testing
Undergoing the GPSM2 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Chudley-McCullough syndrome with high precision
- Early Intervention: Enables timely implementation of appropriate therapies and interventions
- Family Planning: Provides crucial information for reproductive decision-making
- Personalized Care: Guides development of tailored treatment plans based on genetic findings
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic GPSM2 mutations, confirming Chudley-McCullough syndrome diagnosis
- Negative Result: Suggests absence of known GPSM2 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of mutated GPSM2 gene without disease symptoms
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| GPSM2 Gene Chudley-McCullough Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| GPSM2 Gene Chudley-McCullough Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Accessibility
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 collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our specialized GPSM2 genetic testing provides the answers you need for informed medical planning and peace of mind. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your GPSM2 Gene Chudley-McCullough Syndrome NGS Genetic DNA Test. Our expert genetic counselors are ready to guide you through every step of the testing process.
