GNMT Gene Glycine N-Methyltransferase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The GNMT Gene Glycine N-Methyltransferase Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare metabolic disorders affecting glycine metabolism. Glycine N-methyltransferase (GNMT) plays a crucial role in regulating methionine metabolism and maintaining proper glycine levels in the body. When this enzyme is deficient due to genetic mutations, it can lead to serious health complications affecting multiple organ systems.
What This Advanced Genetic Test Detects
Our comprehensive NGS genetic analysis specifically targets the GNMT gene to identify pathogenic variants that cause glycine N-methyltransferase deficiency. The test examines:
- Complete coding regions of the GNMT gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants associated with metabolic disorders
- Novel genetic variations that may impact enzyme function
Who Should Consider GNMT Genetic Testing?
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with:
- Unexplained liver dysfunction or hepatomegaly
- Elevated serum glycine levels without clear cause
- Family history of metabolic disorders
- Developmental delays in children
- Neurological symptoms including seizures or cognitive impairment
- Abnormal liver enzyme profiles
- Suspected inherited metabolic diseases
- Unexplained kidney or endocrine abnormalities
Significant Benefits of GNMT Genetic Testing
Early Diagnosis and Proactive Management
Undergoing GNMT genetic testing provides numerous advantages:
- Accurate Diagnosis: Precise identification of GNMT gene mutations enables definitive diagnosis
- Family Planning: Provides crucial information for genetic counseling and family planning decisions
- Personalized Treatment: Enables development of targeted treatment strategies based on genetic findings
- Proactive Monitoring: Allows for early intervention and regular monitoring of at-risk individuals
- Disease Prevention: Helps prevent complications through early detection and management
- Peace of Mind: Provides clarity and reduces uncertainty for patients and families
Understanding Your Test Results
Comprehensive Genetic Analysis and Interpretation
Our expert geneticists provide detailed interpretation of your GNMT gene analysis:
- Positive Result: Indicates presence of pathogenic GNMT gene mutations confirming diagnosis
- Negative Result: Suggests absence of known pathogenic variants in the GNMT gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of mutated gene
All results include comprehensive genetic counseling to help you understand the implications and next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our GNMT Gene Glycine N-Methyltransferase Deficiency NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With advanced NGS technology and expert genetic analysis, we deliver accurate, reliable results you can trust.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your metabolic health.
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History and Genetic Counseling Session
- Specialties: General Physician, Genetics, Hepatology, Nephrology, Endocrinology
- Methodology: Next-Generation Sequencing (NGS) Technology
