GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Congenital Myasthenic Syndrome
The GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying congenital myasthenic syndrome type 12 (CMS12). This specialized genetic test utilizes advanced next-generation sequencing technology to detect mutations in the GFPT1 gene, which plays a critical role in neuromuscular junction function and muscle contraction regulation.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the GFPT1 (glutamine-fructose-6-phosphate transaminase 1) gene, which encodes an essential enzyme involved in the hexosamine biosynthesis pathway. The test detects:
- Pathogenic variants and mutations in the GFPT1 gene
- Single nucleotide polymorphisms associated with CMS12
- Insertions, deletions, and copy number variations
- Genetic alterations affecting neuromuscular transmission
- Mutations leading to tubular aggregate formation in muscle tissue
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing the following symptoms or clinical presentations:
- Progressive muscle weakness beginning in childhood or early adulthood
- Exercise-induced fatigue and muscle exhaustion
- Ptosis (drooping eyelids) and ophthalmoplegia
- Difficulty with chewing, swallowing, or speaking
- Family history of congenital myasthenic syndromes
- Unexplained muscle weakness with normal nerve conduction studies
- Presence of tubular aggregates in muscle biopsy
- Respiratory muscle weakness requiring ventilation support
Clinical Benefits of GFPT1 Genetic Testing
Undergoing this specialized genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out CMS12 with high accuracy
- Personalized Treatment: Enables targeted therapeutic interventions
- Genetic Counseling: Provides family planning guidance and risk assessment
- Prognostic Information: Helps predict disease progression and severity
- Differential Diagnosis: Distinguishes CMS12 from other neuromuscular disorders
- Clinical Management: Guides appropriate medication selection and monitoring
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates the presence of pathogenic GFPT1 mutations confirming CMS12 diagnosis
- Negative Result: Suggests absence of detectable GFPT1 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history and symptom documentation
- Genetic counseling session with pedigree chart development
- Information about affected family members
- Previous diagnostic test results and medical records
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, San Jose, and many more. Our network of certified collection centers ensures easy access to this specialized genetic testing.
Take Control of Your Neuromuscular Health
Don’t let unexplained muscle weakness and fatigue remain a mystery. The GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 NGS Genetic DNA Test provides the answers you need for proper diagnosis and treatment planning. Our expert team of genetic counselors and neurologists are ready to guide you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or book your appointment online. Take the first step toward understanding your neuromuscular health and receiving the specialized care you deserve.
