PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic conditions. This specialized test focuses on identifying mutations in the phosphofructokinase muscle type (PFKM) gene, which plays a critical role in carbohydrate metabolism. Glycogen Storage Disease Type 7, also known as Tarui disease, is a rare inherited metabolic disorder that affects the body’s ability to properly break down glycogen for energy production.
What This Advanced Genetic Test Detects
Our NGS-based genetic screening specifically targets:
- Pathogenic variants in the PFKM gene located on chromosome 12
- Mutations affecting phosphofructokinase enzyme function
- Genetic alterations that impair glycolysis in muscle tissues
- Inheritance patterns of autosomal recessive metabolic disorders
- Specific nucleotide changes responsible for enzyme deficiency
Who Should Consider This Genetic Screening?
This comprehensive genetic test is particularly recommended for individuals experiencing:
- Exercise intolerance and muscle fatigue during physical activity
- Muscle cramps and pain following moderate exercise
- Elevated creatine kinase levels in blood tests
- Family history of metabolic disorders or unexplained muscle symptoms
- Hemolytic anemia episodes following strenuous activity
- Unexplained muscle weakness or myoglobinuria
Clinical Benefits of Early Detection
Undergoing the PFKM Gene Glycogen Storage Disease Type 7 test provides numerous advantages:
- Accurate diagnosis confirmation for proper treatment planning
- Personalized exercise and dietary recommendations
- Genetic counseling for family planning decisions
- Early intervention to prevent metabolic crises
- Improved quality of life through symptom management
- Comprehensive understanding of inheritance risks
Understanding Your Genetic Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic PFKM gene mutations, confirming Glycogen Storage Disease Type 7 diagnosis
- Negative Result: No disease-causing mutations detected in the PFKM gene analyzed
- Variant of Uncertain Significance: Genetic changes identified require further clinical correlation
- Carrier Status: Identification of individuals carrying one copy of mutated gene
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | PFKM Gene Glycogen Storage Disease Type 7 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 Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Preparation Requirements
To ensure optimal testing accuracy, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Identification of family members affected by metabolic symptoms
- Review of previous laboratory findings and muscle enzyme studies
Nationwide Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in:
- New York City and surrounding metropolitan areas
- Los Angeles and Southern California regions
- Chicago and Midwest territories
- Houston, Dallas, and Texas locations
- Phoenix, Arizona and Southwest facilities
- All other major metropolitan areas nationwide
Take Control of Your Metabolic Health Today
Don’t let unexplained muscle symptoms or metabolic concerns go undiagnosed. Our advanced PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test provides the clarity you need for proper medical management. With our discounted price of $500 USD (regularly $700 USD), comprehensive genetic insights are more accessible than ever.
Call or WhatsApp our genetic specialists today at +1(267) 388-9828 to schedule your consultation and testing appointment. Our team is ready to guide you through the testing process and help you understand your genetic health.
