GALE Gene Galactose epimerase deficiency Genetic Test
Test Components
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Metabolic Disorders
- Doctor: General Physician
- Test Department: Genetics
- Pre Test Information: Clinical History of Patient who is going for GALE Gene Galactose epimerase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Galactose epimerase deficiency.
Test Details
Gene Galactose epimerase deficiency (GALE) is a rare genetic disorder that affects the body’s ability to break down galactose, a type of sugar found in milk and other dairy products. This deficiency is caused by mutations in the GALE gene, which codes for the galactose epimerase enzyme.
Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can be used to analyze multiple genes simultaneously. In the context of GALE deficiency, NGS can be used to identify mutations in the GALE gene that are responsible for the disorder.
A genetic test using NGS for GALE deficiency involves obtaining a DNA sample, typically through a blood sample or a cheek swab. The DNA is then sequenced using NGS technology, which generates a large amount of data that is analyzed by specialized software. The analysis of NGS data allows for the identification of genetic variants, including mutations, in the GALE gene. These variants can then be compared to a reference database to determine if they are associated with GALE deficiency.
Genetic testing for GALE deficiency can provide valuable information for individuals and their families. It can confirm a diagnosis, help guide treatment decisions, and provide information about the risk of passing the disorder on to future generations. It is important to note that genetic testing for GALE deficiency should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.
| Test Name | GALE Gene Galactose epimerase deficiency Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for GALE Gene Galactose epimerase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Galactose epimerase deficiency |
| Test Details |
Gene Galactose epimerase deficiency (GALE) is a rare genetic disorder that affects the body’s ability to break down galactose, a type of sugar found in milk and other dairy products. This deficiency is caused by mutations in the GALE gene, which codes for the galactose epimerase enzyme. Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can be used to analyze multiple genes simultaneously. In the context of GALE deficiency, NGS can be used to identify mutations in the GALE gene that are responsible for the disorder. A genetic test using NGS for GALE deficiency involves obtaining a DNA sample, typically through a blood sample or a cheek swab. The DNA is then sequenced using NGS technology, which generates a large amount of data that is analyzed by specialized software. The analysis of NGS data allows for the identification of genetic variants, including mutations, in the GALE gene. These variants can then be compared to a reference database to determine if they are associated with GALE deficiency. Genetic testing for GALE deficiency can provide valuable information for individuals and their families. It can confirm a diagnosis, help guide treatment decisions, and provide information about the risk of passing the disorder on to future generations. It is important to note that genetic testing for GALE deficiency should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. |
