GALACTOSEMIA GALT GENE MUTATION DETECTION Test
Test Name: GALACTOSEMIA GALT GENE MUTATION DETECTION Test
Components: Price: 1600.0 AED
Sample Condition: 4 mL (2 mL min.) whole blood from 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery: Sample Daily by 11am; Report 15 days
Method: PCR Sequencing
Test type: Inborn Errors of Metabolism
Doctor: Pediatrician
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Details
The GALACTOSEMIA (GALT) GENE MUTATION DETECTION test is a genetic test that is used to identify mutations in the GALT gene. This gene is responsible for producing an enzyme called galactose-1-phosphate uridylyltransferase, which is involved in the breakdown of galactose, a sugar found in milk and other dairy products.
Galactosemia is an inherited disorder that affects the body’s ability to break down galactose. If left untreated, it can lead to serious health problems, including liver damage, kidney problems, and intellectual disability. The GALT gene mutations are the most common cause of galactosemia.
The GALT gene mutation detection test involves analyzing a person’s DNA to identify any mutations or changes in the GALT gene. This can be done through various methods, such as DNA sequencing or targeted mutation analysis. The test can determine if a person carries mutations in the GALT gene, which can help diagnose galactosemia or determine if a person is a carrier of the condition.
The test is typically ordered for individuals who have symptoms of galactosemia or for those who have a family history of the condition. It can also be done for newborn screening purposes in some countries to identify infants who may have galactosemia. The results of the test can help guide treatment decisions and provide information about the risk of passing on the condition to future children.
Genetic counseling is often recommended for individuals who test positive for GALT gene mutations to discuss the implications of the results and to provide support and guidance.
| Test Name | GALACTOSEMIA GALT GENE MUTATION DETECTION Test |
|---|---|
| Components | |
| Price | 1600.0 AED |
| Sample Condition | 4 mL (2 mL min.) whole blood from 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
| Report Delivery | Sample Daily by 11am;Report 15 days |
| Method | PCR Sequencing |
| Test type | Inborn Errors of Metabolism |
| Doctor | Pediatrician |
| Test Department: | MOLECULAR DIAGNOSTICS |
| Pre Test Information | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
| Test Details |
The GALACTOSEMIA (GALT) GENE MUTATION DETECTION test is a genetic test that is used to identify mutations in the GALT gene. This gene is responsible for producing an enzyme called galactose-1-phosphate uridylyltransferase, which is involved in the breakdown of galactose, a sugar found in milk and other dairy products. Galactosemia is an inherited disorder that affects the body’s ability to break down galactose. If left untreated, it can lead to serious health problems, including liver damage, kidney problems, and intellectual disability. The GALT gene mutations are the most common cause of galactosemia. The GALT gene mutation detection test involves analyzing a person’s DNA to identify any mutations or changes in the GALT gene. This can be done through various methods, such as DNA sequencing or targeted mutation analysis. The test can determine if a person carries mutations in the GALT gene, which can help diagnose galactosemia or determine if a person is a carrier of the condition. The test is typically ordered for individuals who have symptoms of galactosemia or for those who have a family history of the condition. It can also be done for newborn screening purposes in some countries to identify infants who may have galactosemia. The results of the test can help guide treatment decisions and provide information about the risk of passing on the condition to future children. Genetic counseling is often recommended for individuals who test positive for GALT gene mutations to discuss the implications of the results and to provide support and guidance. |
