Short Description

NGS genetic DNA test detecets for variant and mutation detection in GALK1 gene for Galactokinase deficiency

PreTest Information

Clinical History of Patient who is going for GALK1 Gene Galactokinase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Galactokinase deficiency

Detail Description

DNA Labs India: GALK1 Gene Galactokinase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Galactokinase deficiency is a rare genetic disorder that affects the body's ability to process galactose, a type of sugar found in milk and other dairy products. This disorder is caused by mutations in the GALK1 gene, which provides instructions for making an enzyme called galactokinase. Galactokinase is necessary for the body to break down galactose into glucose, a sugar that can be used for energy.

Symptoms of Galactokinase Deficiency

Symptoms of galactokinase deficiency typically appear in infancy or early childhood and can include:

• Jaundice (yellowing of the skin and eyes)
• Cataracts
• Liver disease
• Poor weight gain
• Vomiting and diarrhea
• Irritability
• Developmental delays

Diagnosis of Galactokinase Deficiency

Galactokinase deficiency can be diagnosed through genetic testing, which looks for mutations in the GALK1 gene. The most common type of genetic testing used to diagnose galactokinase deficiency is next-generation sequencing (NGS). This type of testing can identify mutations in multiple genes at once, making it a more efficient and cost-effective way to diagnose rare genetic disorders.

DNA Labs India's NGS Genetic DNA Test for Galactokinase Deficiency

DNA Labs India offers an NGS genetic DNA test for galactokinase deficiency. This test analyzes the GALK1 gene for mutations that can cause galactokinase deficiency. The cost of this test is INR 20000.

NGS testing is a highly accurate way to diagnose galactokinase deficiency. It can identify mutations in the GALK1 gene with a high degree of sensitivity and specificity. This means that it can accurately diagnose galactokinase deficiency in patients who have the disorder and accurately rule out the disorder in patients who do not have it.

Conclusion

Galactokinase deficiency is a rare genetic disorder that can cause a range of symptoms, including jaundice, cataracts, liver disease, and developmental delays. It is caused by mutations in the GALK1 gene, which provides instructions for making the galactokinase enzyme. DNA Labs India offers an NGS genetic DNA test for galactokinase deficiency that can accurately diagnose the disorder. The cost of this test is INR 20000.

If you or a loved one is experiencing symptoms of galactokinase deficiency, it is important to seek medical attention and consider genetic testing. Early diagnosis and treatment can help manage symptoms and improve long-term outcomes.

For more information on DNA testing and genetic disorders, contact DNA Labs India today.

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 GALK1 Gene Galactokinase deficiency NGS Genetic DNA Test