Galactosemia Gene Mutation Detection Test
Galactosemia Gene Mutation Detection Test
Galactosemia is a rare, slow-progressing metabolic disorder of genetic origin where an individual has trouble digesting galactose, a common sugar in milk and milk products. Research has revealed multiple forms of this condition, each caused by alterations in specific genes (GALT, GALK1, or GALE genes) that affect corresponding enzymes to break down galactose for energy. In the absence of these enzymes, galactose and its by-products build up to toxic levels in the body and cause long-term disease complications such as liver failure, intellectual disability, severe blood infection, and death.
The Galactosemia Gene Mutation Detection Test is a specialized laboratory procedure designed to accurately identify causative mutations in genes GALT, GALK1, or GALE within an individual's DNA. Serving as a confirmatory test for individuals with a biochemical diagnosis of galactosemia, it enables clinicians to deliver timely interventions and personalized care
What is the Galactosemia Gene Mutation Test Used For?
The Galactosemia Gene Mutation Test is typically used
To provide definitive diagnosis of galactosemia in individuals suspected of having the condition
To confirm the carrier status by detecting variants in individuals having decreased enzyme activity
During prenatal testing in preganacy to find out if the foetus bear mutated genes for galactosemia
Symptoms of Galactosemia
In adults with galactosemia, symptoms usually begin in their childhood but continue to persist life long. Often, they will experience
Cataract
Lower bone mineral density
Delayed mental development and poor learning disabilities
Anxiety, depression, and ADHD(Attention Deficit Hyperactivity Disorder)
Tremors and seizures
Speech problems
premature ovarian failure
Test preparation
This test doesn't require specific preparation. You can follow your normal routine or eat as usual before sampling
Interpretation of the Test Results
Interpretation of Test Results
|
Test Results |
Interpretation |
|
Presence of mutation in GALT, GALK1, or GALE genes with deletion or duplication |
Confirms galactosemia |
|
Detection of 2 pathogenic variants (G/G) |
Classical or clinical-type galactosemia |
|
Detection of 1 pathogenic variant (G/N) |
Carrier state of galactosemia |
|
Absence of mutation |
Does not rule out Galactosemia or carrier state Requires enzyme activity as follow-up testing |
FAQs
How does the Galactosemia Gene Mutation Detection test differ from its traditional screening methods?
Unlike the traditional biochemical screening tests that measure enzyme activity or metabolite levels in blood samples, this Galactosemia Gene Mutation Detection Test provides precise identification of gene mutations linked to Galactosemia along with the identification of genetic variants. The test also allows the determination of carrier status in at-risk individuals
Are there limitations to this test?
Like any laboratory test, the Galactosemia Gene Mutation Detection Test has its own limitations. For instance, not all of the mutations that cause galactosemia can be found using this assay. That means having no mutation(s) detected does not rule out the possibility of a person having galactosemia or being a carrier for it.
Furthermore, this assay is less useful for monitoring dietary compliance by galactosemics.
Therefore, the test results of gene mutation detection should be correlated with clinical findings, family history, and other laboratory data to give disease confirmation
Who should consider getting gene mutation detection testing?
Your doctor may advise this test if they suspect you have symptoms of galactosemia or if there is a family history of the disorder
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