PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited metabolic conditions affecting glycogen metabolism. This specialized genetic analysis focuses on the PHKG2 gene, which encodes the phosphorylase kinase gamma 2 subunit – a critical enzyme in the glycogen breakdown pathway. When mutations occur in this gene, they disrupt normal glycogen metabolism, leading to the accumulation of abnormal glycogen structures in liver and muscle tissues.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic screening specifically targets:
- Pathogenic variants in the PHKG2 gene associated with glycogen storage disease type 9C
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting the PHKG2 gene region
- Regulatory mutations impacting gene expression and enzyme function
Who Should Consider This Genetic Screening?
This specialized genetic test is recommended for individuals presenting with:
Clinical Symptoms and Indications
- Unexplained hepatomegaly (enlarged liver) in childhood
- Recurrent episodes of hypoglycemia without clear cause
- Growth retardation or failure to thrive in pediatric patients
- Elevated liver enzymes (AST, ALT) with no apparent liver disease
- Muscle weakness or exercise intolerance
- Family history of glycogen storage disorders
- Developmental delays associated with metabolic dysfunction
Significant Benefits of Genetic Testing
Undergoing the PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test provides numerous advantages:
Diagnostic and Clinical Benefits
- Definitive Diagnosis: Provides conclusive genetic evidence for glycogen storage disease type 9C
- Early Intervention: Enables prompt initiation of appropriate dietary and medical management
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of tailored therapeutic strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Eliminates Diagnostic Uncertainty: Reduces need for multiple invasive procedures
Understanding Your Genetic Test Results
Our comprehensive genetic analysis provides clear, actionable results:
Result Interpretation Guidance
- Positive Result: Indicates presence of pathogenic PHKG2 gene mutations confirming glycogen storage disease type 9C diagnosis
- Negative Result: Suggests absence of detectable PHKG2 mutations, though other genetic or metabolic causes should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Detects individuals carrying one copy of mutated PHKG2 gene who may pass the condition to offspring
Post-Test Recommendations
Following test completion, we recommend:
- Consultation with metabolic specialists for comprehensive care planning
- Genetic counseling for family members and reproductive planning
- Regular monitoring of liver function and metabolic parameters
- Implementation of appropriate dietary modifications
- Coordination with multidisciplinary healthcare teams
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 | Metabolic Genetics |
Nationwide Accessibility and Convenience
We maintain comprehensive testing facilities across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and metabolic specialists ensures you receive expert guidance throughout the testing process.
Pre-Test Preparation Requirements
Before scheduling your genetic test, please ensure:
- Complete clinical history documentation for the patient
- Genetic counseling session to create detailed family pedigree chart
- Identification of family members affected by glycogen storage disorders
- Discussion of testing implications with healthcare provider
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic symptoms compromise your health and quality of life. Our PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 and comprehensive nationwide coverage, accessing advanced genetic testing has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic screening appointment or to speak with our genetic counseling team. Take the first step toward understanding your metabolic health and securing your family’s genetic future.
