PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the PHKA2 gene, which encodes the alpha subunit of phosphorylase kinase. This enzyme plays a critical role in glycogen metabolism, and defects in its function lead to glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Our advanced next-generation sequencing technology provides comprehensive analysis of the entire PHKA2 gene, enabling precise detection of pathogenic variants that disrupt normal energy storage and utilization processes in the body.
What This Test Measures and Detects
This specialized genetic test specifically targets the PHKA2 gene located on the X chromosome, analyzing its complete coding regions, exon-intron boundaries, and known regulatory elements. The test identifies:
- Point mutations, insertions, and deletions in the PHKA2 gene
- Pathogenic variants affecting phosphorylase kinase enzyme activity
- Genetic markers associated with impaired glycogen breakdown
- X-linked inheritance patterns characteristic of GSD type 9A
- Both known and novel mutations through comprehensive sequencing
Who Should Consider This Test
This genetic test is recommended for individuals presenting with clinical features suggestive of glycogen storage disease type 9A, including:
- Infants and children with unexplained hepatomegaly (enlarged liver)
- Individuals with growth retardation and delayed motor development
- Patients experiencing fasting hypoglycemia and metabolic acidosis
- Those with elevated liver enzymes and hyperlipidemia
- Individuals with family history of X-linked metabolic disorders
- Males with characteristic biochemical abnormalities in liver function
- Patients with suspected glycogen storage diseases unresponsive to conventional treatments
Clinical Benefits of Genetic Testing
Undergoing the PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out GSD type 9A with high precision
- Personalized Treatment: Enables targeted dietary and medical management strategies
- Genetic Counseling: Provides essential information for family planning decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management to prevent long-term complications
- Family Screening: Identifies at-risk relatives who may benefit from preventive measures
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your PHKA2 gene status:
- Positive Result: Indicates the presence of pathogenic mutations confirming GSD type 9A diagnosis
- Negative Result: Suggests absence of detectable PHKA2 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: For females, indicates potential to pass the condition to offspring
All results are accompanied by detailed interpretation from our certified genetic counselors, who provide personalized guidance on next steps and management strategies.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | PHKA2 Gene Glycogen Storage Disease Type 9A 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 |
Nationwide Accessibility and Support
We maintain comprehensive testing facilities across the United States, with specialized centers in major metropolitan areas 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 that patients receive consistent, high-quality care regardless of location.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic DNA Test provides the clarity needed for effective management of this complex condition. With our discounted price of $500 USD and comprehensive genetic analysis, you can access world-class diagnostic capabilities and personalized medical guidance.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Take the first step toward understanding your metabolic health and securing an accurate diagnosis for proper treatment planning.
