Short Description

NGS genetic DNA test detecets for variant and mutation detection in GALC gene for Krabbe disease

PreTest Information

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

Detail Description

GALC Gene Krabbe Disease NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Genetic diseases have become increasingly common in today's world. Krabbe disease is one such disease that affects the nervous system and is caused by a deficiency of the GALC enzyme. This disease affects newborns and infants and can lead to severe neurological damage. DNA Labs India offers a Galactosylceramidase (GALC) gene NGS test to diagnose this disease.

What is Krabbe Disease?

Krabbe disease is a rare genetic disorder that affects the nervous system. It is caused by the deficiency of the GALC enzyme that is responsible for breaking down a fatty substance called galactosylceramide. The buildup of this substance in the nervous system leads to the destruction of myelin, which is the protective covering of nerve fibers. This results in severe neurological damage and can be fatal.

Symptoms of Krabbe Disease

The symptoms of Krabbe disease vary depending on the age of onset. In newborns, the symptoms include:

• irritability
• fever
• vomiting
• seizures
• muscle stiffness
• feeding difficulties

In older infants, the symptoms include:

• loss of developmental milestones
• muscle weakness
• hypertonia
• decreased vision and hearing
• irritability
• seizures

Diagnosis of Krabbe Disease

The diagnosis of Krabbe disease is based on clinical symptoms, family history, and genetic testing. DNA Labs India offers a Galactosylceramidase (GALC) gene NGS test to diagnose this disease. This test uses Next-Generation Sequencing (NGS) technology to identify mutations in the GALC gene that are associated with Krabbe disease.

GALC Gene NGS Genetic DNA Test Cost

The cost of the GALC Gene NGS Genetic DNA Test at DNA Labs India is INR 20,000. This test is performed using state-of-the-art technology and is conducted by highly trained professionals. The results of the test are highly accurate and can help in the early diagnosis of Krabbe disease.

Conclusion

Krabbe disease is a rare genetic disorder that affects the nervous system and can be fatal if left untreated. DNA Labs India offers a Galactosylceramidase (GALC) gene NGS test to diagnose this disease. Early diagnosis of Krabbe disease can help in the management of symptoms and can improve the quality of life of affected individuals. The GALC Gene NGS Genetic DNA Test at DNA Labs India is affordable and accurate, making it an accessible option for those who suspect they or their loved ones may be affected by Krabbe disease.

Contact DNA Labs India today to learn more about the GALC Gene NGS Genetic DNA Test and how it can help in the diagnosis of Krabbe disease.