Short Description

NGS genetic DNA test detecets for variant and mutation detection in GALE gene for Galactose epimerase deficiency

PreTest 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

Detail Description

GALE Gene Galactose Epimerase Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Galactose epimerase deficiency, also known as GALE gene deficiency, is a rare genetic disorder that affects the body's ability to convert galactose to glucose. This condition is caused by mutations in the GALE gene, which provides instructions for making an enzyme called UDP-galactose-4-epimerase. The deficiency of this enzyme leads to the accumulation of toxic levels of galactose in the body, causing a range of symptoms.

Symptoms of Galactose Epimerase Deficiency

The symptoms of GALE gene deficiency can vary widely, depending on the severity of the condition. Some of the common symptoms include:

• Jaundice
• Liver dysfunction
• Hypoglycemia
• Mental retardation
• Developmental delay
• Failure to thrive

In some cases, affected individuals may also experience cataracts, seizures, and muscle weakness.

Diagnosis of Galactose Epimerase Deficiency

Diagnosis of GALE gene deficiency involves a combination of clinical evaluation, biochemical testing, and genetic testing. The healthcare provider may perform a physical examination to check for the presence of jaundice, cataracts, and other symptoms. Blood tests may also be ordered to measure the levels of galactose, glucose, and other metabolic markers.

Genetic testing is the most definitive method of diagnosis for GALE gene deficiency. This involves analyzing the DNA sequence of the GALE gene to identify any mutations or variations that may be causing the condition. Next-generation sequencing (NGS) is a cutting-edge genetic testing technique that allows for the rapid and accurate analysis of multiple genes at once.

NGS Genetic DNA Test Cost for Galactose Epimerase Deficiency

The cost of NGS genetic testing for GALE gene deficiency can vary depending on the laboratory and the specific tests being performed. In India, the cost of NGS testing for this condition is typically around INR 20,000.

Many insurance companies may cover the cost of genetic testing for GALE gene deficiency, particularly if the patient has a family history of the condition or has already been diagnosed with symptoms. However, it is important to check with the insurance provider before undergoing any testing to ensure that it is covered.

Conclusion

Galactose epimerase deficiency is a rare genetic disorder that can cause a range of symptoms, including jaundice, liver dysfunction, and mental retardation. Diagnosis of this condition involves a combination of clinical evaluation, biochemical testing, and genetic testing. NGS genetic testing is a cutting-edge technique that can rapidly and accurately analyze multiple genes at once, including the GALE gene. The cost of NGS testing for GALE gene deficiency is typically around INR 20,000 in India.

If you suspect that you or a loved one may be affected by GALE gene deficiency, it is important to speak with a healthcare provider to discuss testing and treatment options.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GALE Gene Galactose epimerase deficiency NGS Genetic DNA Test