GALK1 Gene Galactokinase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The GALK1 Gene Galactokinase Deficiency NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic conditions. This advanced genetic analysis utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the GALK1 gene, which encodes the enzyme galactokinase essential for proper galactose metabolism. Early detection through this comprehensive test can prevent serious health complications and enable targeted therapeutic interventions.
What This Test Measures and Detects
This sophisticated genetic test specifically analyzes the GALK1 gene located on chromosome 17q24 to identify pathogenic variants that cause galactokinase deficiency. The test detects:
- Point mutations, insertions, and deletions in the GALK1 gene
- Single nucleotide polymorphisms affecting enzyme function
- Compound heterozygous and homozygous mutations
- Novel genetic variants with potential clinical significance
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms or risk factors associated with galactokinase deficiency:
- Infants with feeding difficulties, vomiting, or failure to thrive after milk consumption
- Children or adults with early-onset cataracts without other apparent causes
- Individuals with elevated galactose levels in blood or urine tests
- Patients with family history of galactose metabolism disorders
- Newborns with positive galactosemia screening requiring confirmatory testing
- Couples with family history planning pregnancy
Key Benefits of GALK1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Early Intervention: Enables prompt dietary modifications to prevent cataract development
- Accurate Diagnosis: Provides definitive confirmation of galactokinase deficiency
- Family Planning: Identifies carrier status for informed reproductive decisions
- Personalized Treatment: Guides tailored management strategies based on specific genetic mutations
- Prognostic Information: Helps predict disease severity and potential complications
- Cost-Effective: Prevents unnecessary medical expenses through accurate diagnosis
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates presence of pathogenic mutations confirming galactokinase deficiency diagnosis
- Negative Result: Suggests absence of known disease-causing variants in the GALK1 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 are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GALK1 Gene Galactokinase 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 |
| Specialty | General Physician, Genetics |
| Method | NGS Technology |
| Disease Type | Metabolic Disorders |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network ensures accessible genetic testing services for patients nationwide.
Take Action for Your Genetic Health
Don’t wait to get the answers you need for proper diagnosis and management of potential metabolic disorders. Our team of genetic specialists and counselors are ready to assist you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your GALK1 Gene Galactokinase Deficiency NGS Genetic DNA Test and take control of your genetic health journey.
