PGK1 Gene Phosphoglycerate Kinase 1 Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Metabolic Disorders
The PGK1 Gene Phosphoglycerate Kinase 1 Deficiency NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with phosphoglycerate kinase deficiency. This rare X-linked metabolic disorder affects the glycolytic pathway, leading to significant clinical manifestations including hemolytic anemia, neurological impairment, and developmental challenges. Our advanced testing methodology provides healthcare providers with critical genetic information to guide treatment decisions and improve patient outcomes.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the PGK1 gene located on the X chromosome, utilizing cutting-edge Next-Generation Sequencing (NGS) technology to identify:
- Pathogenic variants and mutations in the PGK1 gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and other structural variations
- X-linked inheritance patterns characteristic of this disorder
- Genetic markers associated with disease severity and progression
The test provides complete sequencing coverage of the PGK1 gene coding regions, splice sites, and regulatory elements to ensure comprehensive mutation detection.
Who Should Consider PGK1 Genetic Testing
This specialized genetic test is recommended for individuals presenting with:
- Unexplained hemolytic anemia with normal enzyme screening
- Neurological symptoms including seizures, movement disorders, or cognitive impairment
- Developmental delays in childhood or adolescence
- Family history of X-linked metabolic disorders
- Unexplained myopathy or muscle weakness
- Recurrent episodes of hemolysis without clear etiology
- Suspected phosphoglycerate kinase deficiency based on clinical presentation
Clinical Benefits of PGK1 Genetic Testing
Undergoing PGK1 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out phosphoglycerate kinase deficiency with high precision
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to prevent complications
- Differential Diagnosis: Distinguishes PGK1 deficiency from other metabolic disorders with similar presentations
Understanding Your Test Results
Your PGK1 genetic test results will be carefully interpreted by our team of board-certified genetic specialists:
- Positive Result: Indicates the presence of pathogenic variants in the PGK1 gene, confirming phosphoglycerate kinase deficiency diagnosis
- Negative Result: Suggests no disease-causing mutations were detected, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: For female relatives, identifies carrier status for X-linked inheritance patterns
All results include comprehensive interpretation and recommendations for clinical management. Genetic counseling is strongly recommended to discuss results and implications for family members.
Test Specifications and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | PGK1 Gene Phosphoglycerate Kinase 1 Deficiency 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 |
| Specialty | Neurology and Genetics |
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications with healthcare provider
- Informed consent process for genetic testing
- Collection of appropriate sample type based on patient circumstances
Nationwide Testing Availability
We proudly offer PGK1 genetic testing services across the United States through our extensive network of certified testing centers. Our facilities are conveniently located in major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest locations
- Houston and Texas medical centers
- Phoenix and Southwest facilities
- All other major US cities and regions
Our commitment to accessibility ensures that patients nationwide can benefit from advanced genetic testing without extensive travel requirements.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms or metabolic disorders delay proper diagnosis and treatment. Our PGK1 genetic testing provides the definitive answers needed for effective medical management and improved quality of life.
Ready to schedule your PGK1 genetic test? Contact our genetic specialists today:
Call or WhatsApp: +1(267) 388-9828
Our dedicated team is available to answer your questions, discuss testing options, and help you schedule your appointment at a convenient location near you. Take control of your neurological health with comprehensive genetic testing from America’s trusted genetics provider.
