GALT Gene Galactosemia NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The GALT Gene Galactosemia NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic conditions. This advanced screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the GALT gene, which plays a critical role in galactose metabolism. Galactosemia is an inherited metabolic disorder that affects the body’s ability to process galactose, a sugar component of lactose found in dairy products.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the GALT (galactose-1-phosphate uridylyltransferase) gene located on chromosome 9. The test identifies:
- Pathogenic variants and mutations in the GALT gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and complex rearrangements
- Both common and rare genetic variants associated with galactosemia
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Newborns with feeding difficulties, vomiting, or lethargy after milk consumption
- Infants showing failure to thrive or developmental delays
- Children with unexplained liver dysfunction or jaundice
- Individuals with family history of galactosemia or metabolic disorders
- Couples planning pregnancy with known family history of genetic conditions
- Patients with cataracts at an early age without other explanations
- Siblings of diagnosed galactosemia patients for carrier screening
Significant Benefits of Early Detection
Early identification through the GALT Gene Galactosemia Test provides numerous advantages:
- Prevention of Severe Complications: Early dietary intervention can prevent liver damage, neurological impairment, and cataracts
- Personalized Treatment Planning: Results guide specific dietary restrictions and medical management
- Family Planning Guidance: Identifies carrier status for informed reproductive decisions
- Improved Quality of Life: Proper management from infancy can lead to normal development and health
- Cost-Effective Healthcare: Prevents expensive long-term complications through early intervention
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates presence of GALT gene mutations; requires immediate dietary management and medical follow-up
- Negative Result: No detected mutations; however, clinical correlation with symptoms is essential
- Carrier Status: Identifies individuals with one copy of mutated gene who can pass the condition to offspring
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GALT Gene Galactosemia NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proactive healthcare management. Our genetic specialists are available to discuss your testing options and provide comprehensive pre-test counseling. Early detection of galactosemia can significantly improve health outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your GALT Gene Galactosemia NGS Genetic DNA Test and take the first step toward understanding your genetic health.
Our team of genetic counselors and metabolic specialists will guide you through the testing process, from sample collection to result interpretation, ensuring you receive the comprehensive care and support you deserve.
