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 GALC Gene Krabbe disease

Detail Description

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

As science and technology continue to advance, DNA testing has become an essential tool for various fields, including medicine. One of the most common uses of DNA testing is for diagnosing genetic diseases, including Krabbe disease. Krabbe disease is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the GALC gene, which leads to the accumulation of toxic substances in the brain.

Symptoms of Krabbe Disease

Krabbe disease is a progressive disorder, which means that its symptoms worsen over time. The symptoms of Krabbe disease typically appear in infants and young children and include:

• irritability
• fever
• seizures
• muscle stiffness
• feeding difficulties
• vision loss
• hearing loss
• delayed development
• weakness
• paralysis

Diagnosis of Krabbe Disease

Diagnosing Krabbe disease requires a thorough medical evaluation and genetic testing. One of the most common methods of genetic testing used for Krabbe disease is Next-Generation Sequencing (NGS). NGS is a high-throughput DNA sequencing technology that allows for the rapid and accurate analysis of DNA. NGS can detect mutations in the GALC gene that cause Krabbe disease. Other tests that may be used to diagnose Krabbe disease include:

• Blood tests to measure the levels of GALC enzyme
• MRI scans to detect changes in the brain
• Nerve conduction studies to evaluate nerve function

Cost of GALC Gene Krabbe Disease NGS Genetic DNA Test

The cost of GALC Gene Krabbe Disease NGS Genetic DNA Test in India is around INR 20,000. This cost may vary depending on the laboratory and the location of the test. It is important to note that genetic testing may not be covered by insurance, and patients should check with their insurance providers regarding coverage.

Conclusion

Krabbe disease is a rare genetic disorder that affects the nervous system. Early diagnosis and treatment are essential in managing the symptoms of the disease. Genetic testing, such as NGS, is an important tool in diagnosing Krabbe disease. If you suspect that you or your child may have Krabbe disease, it is important to seek medical attention and genetic testing. The cost of GALC Gene Krabbe Disease NGS Genetic DNA Test in India is around INR 20,000, and patients should check with their insurance providers regarding coverage.

For more information on Krabbe disease and genetic testing, visit DNA Labs India.

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 GALC Gene Krabbe disease NGS Genetic DNA Test