PHKB Gene Glycogen Storage Disease Type 9B NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The PHKB Gene Glycogen Storage Disease Type 9B NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Glycogen Storage Disease Type 9B. This autosomal recessive metabolic disorder affects the body’s ability to properly store and utilize glycogen, leading to significant health complications when left undiagnosed. Our advanced genetic testing provides definitive answers for patients and families affected by this rare condition.
What This Test Measures and Detects
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the PHKB gene for pathogenic variants. The test specifically identifies:
- Point mutations, deletions, and insertions in the PHKB gene
- Variants affecting phosphorylase kinase beta subunit function
- Genetic markers associated with impaired glycogen metabolism
- Inheritance patterns for family risk assessment
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Unexplained hepatomegaly (enlarged liver) in childhood
- Progressive muscle weakness and fatigue
- Delayed growth and development milestones
- Elevated liver enzymes without clear cause
- Family history of glycogen storage diseases
- Siblings of diagnosed individuals for carrier screening
- Unexplained metabolic abnormalities
Clinical Benefits of Early Detection
Early diagnosis through genetic testing provides numerous advantages:
- Personalized treatment and management strategies
- Prevention of disease complications through proactive care
- Informed family planning decisions
- Accurate genetic counseling for at-risk relatives
- Elimination of diagnostic uncertainty
- Access to specialized metabolic care programs
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of pathogenic PHKB gene mutations confirming Glycogen Storage Disease Type 9B diagnosis
- Negative Result: Suggests absence of known disease-causing variants in the PHKB gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our PHKB Gene Glycogen Storage Disease Type 9B NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to help you understand your risk and take proactive steps toward better health.
