GFM2 Gene Microcephaly with Simplified Gyral Pattern and Insulin-Dependent Diabetes NGS Genetic DNA Test
Comprehensive Genetic Testing for Complex Neurological and Endocrine Disorders
The GFM2 Gene Microcephaly with Simplified Gyral Pattern and Insulin-Dependent Diabetes NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare genetic disorders affecting both neurological development and endocrine function. This specialized test utilizes next-generation sequencing technology to analyze the GFM2 gene, which plays a critical role in mitochondrial protein synthesis and cellular energy production.
What This Advanced Genetic Test Measures
Our comprehensive NGS test specifically targets and sequences the entire GFM2 gene to identify pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the GFM2 gene
- Complex rearrangements impacting gene function
The GFM2 gene encodes the mitochondrial elongation factor G2, which is essential for mitochondrial ribosome function and proper energy metabolism in cells throughout the body, particularly in brain development and pancreatic beta cells.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with the following clinical features:
- Microcephaly: Significantly reduced head circumference below the 3rd percentile
- Neurological abnormalities: Simplified gyral patterns on brain imaging
- Developmental delays: Motor and cognitive developmental impairment
- Early-onset diabetes: Insulin-dependent diabetes mellitus appearing in childhood
- Family history: Known or suspected genetic disorders with similar presentations
- Unexplained neurological symptoms: When standard diagnostic approaches have been inconclusive
Clinical Benefits of GFM2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive molecular confirmation of GFM2-related disorders
- Personalized Treatment: Enables targeted management strategies for both neurological and endocrine manifestations
- Genetic Counseling: Facilitates informed family planning decisions and recurrence risk assessment
- Early Intervention: Allows for timely implementation of supportive therapies and monitoring
- Research Contribution: Contributes to expanding knowledge about rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results:
- Positive Result: Identifies a pathogenic variant in the GFM2 gene, confirming the genetic diagnosis and enabling targeted management
- Negative Result: No pathogenic variants detected in the GFM2 gene, suggesting alternative genetic or non-genetic causes for symptoms
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring further evaluation and possibly family studies
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
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 other cities. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or your loved one is experiencing symptoms consistent with GFM2-related disorders, don’t delay in seeking genetic answers. Our specialized team is ready to provide comprehensive genetic testing and counseling services. Contact us today to schedule your appointment and begin your journey toward accurate diagnosis and personalized care.
Call or WhatsApp us at +1(267) 388-9828 to book your GFM2 genetic test today and take control of your genetic health journey.
