GALE Gene Galactose Epimerase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Health
The GALE Gene Galactose Epimerase Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with galactose metabolism disorders. This specialized test utilizes next-generation sequencing technology to comprehensively analyze the GALE gene, which encodes the enzyme UDP-galactose-4-epimerase. This enzyme plays a critical role in converting galactose to glucose, and deficiencies can lead to serious metabolic complications if left undiagnosed.
What This Advanced Genetic Test Detects
Our NGS-based genetic test specifically identifies:
- Pathogenic variants in the GALE gene responsible for galactose epimerase deficiency
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Insertions, deletions, and missense mutations impacting galactose metabolism
- Genetic markers associated with varying severity levels of the condition
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This genetic test is particularly recommended for individuals presenting with:
- Infants with feeding difficulties, vomiting, or diarrhea after milk consumption
- Newborns exhibiting jaundice, hepatomegaly, or failure to thrive
- Children with developmental delays or intellectual disabilities
- Individuals with family history of galactosemia or metabolic disorders
- Patients with unexplained liver dysfunction or cataracts
- Siblings of diagnosed individuals for carrier screening
- Couples planning pregnancy with family history of metabolic conditions
Significant Benefits of Early Detection
Undergoing the GALE Gene Galactose Epimerase Deficiency test provides numerous advantages:
- Early Intervention: Enables prompt dietary modifications to prevent complications
- Personalized Treatment: Guides development of individualized management plans
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Preventive Care: Helps avoid serious complications like liver damage and neurological issues
- Accurate Diagnosis: Differentiates between various forms of galactosemia for targeted therapy
- Peace of Mind: Reduces uncertainty and enables proactive health management
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and explained by our expert genetic counselors:
- Positive Result: Indicates presence of pathogenic variants requiring immediate dietary intervention and medical management
- Negative Result: Suggests absence of known disease-causing mutations in the GALE gene
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who can pass the condition to offspring
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Details
| 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 |
Nationwide Accessibility
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 consistent quality and reliable results nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic health concerns affect your quality of life. Our GALE Gene Galactose Epimerase Deficiency NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access advanced diagnostic capabilities without financial burden.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Note: Pre-test requirements include providing clinical history and participating in a genetic counseling session to create a detailed family pedigree chart for comprehensive assessment.
