Short Description

NGS genetic DNA test detecets for variant and mutation detection in GALT gene for Galactosemia

PreTest Information

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

Detail Description

GALT Gene Galactosemia NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost in India

Galactosemia is a rare genetic disorder that affects the body's ability to metabolize galactose, a sugar found in milk and other dairy products. It is caused by mutations in the GALT gene, which provides instructions for making an enzyme called galactose-1-phosphate uridylyltransferase (GALT). Without enough GALT, galactose builds up in the body and can cause serious health problems.

If you suspect that you or someone in your family may have galactosemia, a GALT gene NGS genetic DNA test can help diagnose the condition. In this blog, we will discuss the symptoms and diagnosis of galactosemia, as well as the cost of GALT gene NGS genetic DNA testing in India.

Symptoms of Galactosemia

Galactosemia can cause a range of symptoms, which can vary depending on the severity of the condition and the age of the affected person. Some common symptoms of galactosemia include:

• Jaundice (yellowing of the skin and eyes)
• Poor feeding and weight gain
• Vomiting and diarrhea
• Lethargy and irritability
• Enlarged liver
• Developmental delays
• Cataracts
• Speech difficulties
• Intellectual disability

If you or someone in your family is experiencing any of these symptoms, it is important to speak with a healthcare provider as soon as possible.

Diagnosis of Galactosemia

Galactosemia is typically diagnosed through a combination of physical exams, blood tests, and genetic testing. If a healthcare provider suspects that a person may have galactosemia based on their symptoms, they may order a blood test to measure the levels of galactose and GALT enzyme activity in the blood.

If the blood test indicates that the person has high levels of galactose and low levels of GALT enzyme activity, genetic testing may be ordered to confirm the diagnosis. GALT gene NGS genetic DNA testing can identify mutations in the GALT gene that are associated with galactosemia.

Cost of GALT Gene NGS Genetic DNA Testing in India

The cost of GALT gene NGS genetic DNA testing in India can vary depending on the provider and the location. On average, the cost of this test ranges from INR 15,000 to INR 25,000.

It is important to speak with a healthcare provider or a genetic counselor about the cost and coverage of genetic testing, as some insurance plans may cover all or part of the cost.

Conclusion

Galactosemia is a serious genetic disorder that can cause a range of symptoms, including developmental delays, cataracts, and intellectual disability. If you suspect that you or someone in your family may have galactosemia, it is important to speak with a healthcare provider as soon as possible. GALT gene NGS genetic DNA testing can help diagnose the condition and provide valuable information for treatment and management.

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 GALT Gene Galactosemia NGS Genetic DNA Test