Short Description

NGS genetic DNA test detecets for variant and mutation detection in NHLRC1 gene for Myoclonic epilepsy of Lafora

PreTest Information

Clinical History of Patient who is going for NHLRC1 Gene Myoclonic epilepsy of Lafora NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NHLRC1 Gene Myoclonic epilepsy of Lafora

Detail Description

NHLRC1 Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test

Myoclonic epilepsy of Lafora is a rare genetic disorder that affects the nervous system. It is caused by mutations in the NHLRC1 gene, which is responsible for coding a protein that helps regulate the metabolism of glycogen in the body.

The symptoms of myoclonic epilepsy of Lafora typically begin in adolescence and include seizures, muscle twitches, and difficulty with movement and coordination. The disease is progressive and can lead to severe neurological impairment and early death.

Diagnosis

The diagnosis of myoclonic epilepsy of Lafora is typically made through a combination of clinical evaluation, EEG testing, and genetic testing. EEG testing can help identify the characteristic electrical abnormalities in the brain that are associated with the disease, while genetic testing can confirm the presence of mutations in the NHLRC1 gene.

NGS Genetic DNA Test

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool that can be used to identify mutations in the NHLRC1 gene that cause myoclonic epilepsy of Lafora. This testing method is highly accurate and can detect even very rare mutations in the gene.

NGS genetic DNA testing is performed using a small sample of blood or tissue from the patient. The DNA is extracted from the sample and then sequenced using advanced technology that can rapidly analyze large amounts of genetic data. The results of the test can be used to confirm a diagnosis of myoclonic epilepsy of Lafora and to help guide treatment decisions.

Cost

The cost of NGS genetic DNA testing for myoclonic epilepsy of Lafora varies depending on the specific testing method used and the laboratory performing the test. In India, the cost of this test typically ranges from INR 20,000 to INR 30,000.

Conclusion

NGS genetic DNA testing is a valuable tool for the diagnosis of myoclonic epilepsy of Lafora caused by mutations in the NHLRC1 gene. This testing method is highly accurate and can provide important information that can help guide treatment decisions. If you or a loved one is experiencing symptoms of myoclonic epilepsy of Lafora, speak with your healthcare provider about the possibility of genetic testing.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for myoclonic epilepsy of Lafora. Contact us to learn more about our services and how we can help you.