Galactosemia GALT Gene Mutation Detection Test
Understanding Galactosemia and Genetic Testing
Galactosemia is a rare inherited metabolic disorder that affects the body’s ability to process galactose, a simple sugar found in milk and dairy products. The Galactosemia GALT Gene Mutation Detection Test represents a critical advancement in genetic diagnostics, specifically designed to identify mutations in the GALT (galactose-1-phosphate uridylyltransferase) gene. This comprehensive genetic analysis provides definitive diagnosis for classic galactosemia, enabling early intervention and proper management of this potentially life-threatening condition.
What Does This Test Detect?
This specialized genetic test utilizes cutting-edge PCR sequencing technology to examine the GALT gene for specific mutations that cause galactosemia. The test identifies:
- Point mutations in the GALT gene coding regions
- Deletions and insertions affecting enzyme function
- Specific genetic variants associated with classic galactosemia
- Carrier status for galactosemia inheritance patterns
Advanced Molecular Diagnostics
Our testing methodology employs polymerase chain reaction (PCR) amplification followed by comprehensive DNA sequencing, ensuring the highest level of accuracy in mutation detection. This approach allows for precise identification of even rare genetic variants that might be missed by conventional screening methods.
Who Should Consider This Test?
This genetic test is particularly recommended for:
- Newborns with positive newborn screening results for galactosemia
- Infants showing symptoms after milk consumption including vomiting, diarrhea, and failure to thrive
- Children with unexplained liver dysfunction or jaundice
- Individuals with family history of galactosemia or metabolic disorders
- Parents planning pregnancy with known family history of metabolic conditions
- Siblings of diagnosed patients for carrier status determination
Clinical Indications and Symptoms
Early symptoms that may indicate the need for testing include feeding difficulties, lethargy, hypoglycemia, and elevated bilirubin levels in infants. Without proper diagnosis and dietary intervention, galactosemia can lead to serious complications including liver cirrhosis, kidney damage, brain damage, and cataracts.
Benefits of Galactosemia Genetic Testing
- Early Diagnosis: Enables immediate dietary intervention to prevent complications
- Accurate Carrier Detection: Identifies individuals carrying the galactosemia gene
- Family Planning Guidance: Provides crucial information for genetic counseling
- Personalized Treatment: Guides specific dietary restrictions and medical management
- Prevention of Complications: Reduces risk of long-term organ damage
- Improved Quality of Life: Enables normal development with proper management
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and molecular pathologists. Results typically fall into these categories:
Positive Result Interpretation
A positive result indicates the presence of mutations in the GALT gene consistent with galactosemia. This confirms the diagnosis and requires immediate implementation of a galactose-restricted diet. Our genetic counseling team will provide comprehensive guidance on dietary management and long-term care.
Negative Result Interpretation
A negative result suggests the absence of known galactosemia-causing mutations in the GALT gene. However, it’s important to note that rare or novel mutations may not be detected by standard testing methods. Clinical correlation with symptoms and biochemical testing remains essential.
Carrier Status
Some individuals may be identified as carriers, meaning they have one copy of a mutated GALT gene. Carriers typically do not show symptoms but can pass the condition to their children if their partner is also a carrier.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $288 |
| Regular Price | $450 |
| Turnaround Time | 15 days |
| Sample Type | 4 mL whole blood from Lavender top (EDTA) tube |
| Testing Method | PCR Sequencing |
Sample Collection Requirements
Proper sample collection is essential for accurate results. We require 4 mL (minimum 2 mL) of whole blood collected in a Lavender top EDTA tube. Samples must be shipped refrigerated and should never be frozen. The mandatory Genomics Clinical Information Requisition Form (Form 20) must be completed and submitted with the sample.
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient testing centers 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 phlebotomists and collection facilities ensures accessible testing for patients nationwide.
Take Action for Better Health
Early detection of galactosemia through genetic testing can significantly improve health outcomes and prevent serious complications. Don’t wait to get the answers you need for proper management of this metabolic condition. Our team of genetic specialists is ready to provide expert guidance and support throughout the testing process.
Book Your Test Today
Schedule your Galactosemia GALT Gene Mutation Detection Test by calling our dedicated genetic counseling team at +1(267) 388-9828 or visit our website to book your appointment online. Take the first step toward understanding your genetic health and ensuring proper management of metabolic conditions.
