PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, offering precise detection of genetic mutations associated with phosphoglycerate dehydrogenase deficiency. This rare autosomal recessive condition disrupts serine biosynthesis, leading to significant neurological and developmental challenges. Our advanced testing methodology provides healthcare providers and patients with definitive diagnostic information crucial for developing effective treatment strategies.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the PHGDH gene located on chromosome 1p12, which encodes the enzyme phosphoglycerate dehydrogenase. Through next-generation sequencing technology, we analyze:
- Complete coding regions of the PHGDH gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants associated with serine deficiency
- Novel genetic variations with potential clinical significance
- Copy number variations affecting gene function
Who Should Consider This Genetic Test
This comprehensive genetic screening is recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or microcephaly
- Developmental delays or intellectual disability of unknown origin
- Family history of phosphoglycerate dehydrogenase deficiency
- Metabolic abnormalities suggestive of serine biosynthesis disorders
- Congenital microcephaly with progressive neurological deterioration
- Abnormal brain imaging findings consistent with serine deficiency
- Siblings of affected individuals for carrier screening
Clinical Benefits of Early Detection
Early diagnosis through PHGDH gene testing provides numerous clinical advantages:
- Enables prompt initiation of serine supplementation therapy
- Facilitates personalized treatment planning based on genetic findings
- Provides accurate genetic counseling for family planning decisions
- Helps prevent neurological complications through early intervention
- Offers prognostic information for disease progression and management
- Reduces diagnostic uncertainty and unnecessary medical testing
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates presence of pathogenic mutations confirming diagnosis
- Negative Result: Suggests absence of known PHGDH mutations
- Variant of Uncertain Significance: Requires additional clinical correlation
- Carrier Status: Identifies individuals with single mutation copies
All results include detailed clinical implications and recommendations for follow-up care. Genetic counseling is strongly recommended to fully understand your results and their implications for you and your family.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Development of detailed family pedigree chart
- Review of previous metabolic testing results
- Discussion of potential implications and limitations
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, and San Jose. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions. With advanced NGS technology and expert genetic analysis, we deliver accurate results you can trust.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and accessing personalized treatment options.
