GALE Gene Galactose Epimerase Deficiency NGS Genetic DNA Test
Introduction to the GALE Gene Test
The GALE Gene Galactose Epimerase Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the GALE gene, which plays a critical role in galactose metabolism. This test is essential for individuals with symptoms of metabolic disorders related to galactose intolerance, enabling early diagnosis and management.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to detect specific mutations in the GALE gene. By analyzing the genetic makeup, the test helps determine if an individual has a deficiency in galactose epimerase, an enzyme crucial for converting galactose into glucose, thereby preventing potential metabolic complications.
Who Should Consider This Test?
Individuals exhibiting symptoms of galactose intolerance, such as:
- Failure to thrive in infants
- Jaundice
- Vomiting
- Diarrhea
- Developmental delays
Additionally, family members of diagnosed individuals or those with a known family history of galactose epimerase deficiency should consider this test.
Benefits of Taking the Test
- Early diagnosis of metabolic disorders.
- Informed decisions regarding dietary management.
- Genetic counseling for affected families.
- Peace of mind through understanding genetic risks.
Understanding Your Results
Results from the GALE Gene test will indicate whether mutations are present in the GALE gene. A positive result confirms a diagnosis of galactose epimerase deficiency, while a negative result may suggest that galactose metabolism is functioning normally. It is essential to discuss your results with a healthcare professional for appropriate guidance and management.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GALE Gene Galactose Epimerase Deficiency NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Booking Your Test
To book the GALE Gene Galactose Epimerase Deficiency NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you in scheduling your appointment and providing any further information you may need.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-test Instructions: Clinical history of the patient undergoing the test and a genetic counseling session to draw a pedigree chart of family members affected by galactose epimerase deficiency.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
