Short Description

NGS genetic DNA test detecets for variant and mutation detection in ANO5 gene for Limb-girdle muscular dystrophy, autosomal recessive type 2L

PreTest Information

Clinical History of Patient who is going for ANO5 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2L NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ANO5 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2L

Detail Description

ANO5 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2L NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders that cause muscle weakness and wasting. There are many different types of LGMD, each caused by mutations in different genes. ANO5 gene limb-girdle muscular dystrophy, autosomal recessive type 2L is one such type, caused by mutations in the ANO5 gene.

Symptoms of ANO5 Gene Limb-girdle Muscular Dystrophy, Autosomal Recessive Type 2L

The symptoms of ANO5 gene limb-girdle muscular dystrophy, autosomal recessive type 2L can vary from person to person. The condition typically causes weakness and wasting of the muscles in the hips and shoulders, which can make it difficult to walk, climb stairs, or lift objects. Other symptoms may include:

• Difficulty standing up from a seated position
• Frequent falls
• Trouble raising the arms above the head
• Difficulty swallowing
• Weakness in the facial muscles

Diagnosis of ANO5 Gene Limb-girdle Muscular Dystrophy, Autosomal Recessive Type 2L

Diagnosis of ANO5 gene limb-girdle muscular dystrophy, autosomal recessive type 2L typically involves a combination of physical examination, medical history, and genetic testing. A doctor may perform a neurological examination to assess muscle strength and reflexes, as well as blood tests to rule out other conditions that may cause similar symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the ANO5 gene.

NGS Genetic DNA Test for ANO5 Gene Limb-girdle Muscular Dystrophy, Autosomal Recessive Type 2L

NGS (next-generation sequencing) genetic DNA testing is a powerful tool that can identify mutations in the ANO5 gene associated with limb-girdle muscular dystrophy, autosomal recessive type 2L. This type of testing can help confirm a diagnosis, as well as provide information about the specific genetic mutations involved. The cost of NGS genetic DNA testing for ANO5 gene limb-girdle muscular dystrophy, autosomal recessive type 2L is typically around INR 20,000.

Conclusion

ANO5 gene limb-girdle muscular dystrophy, autosomal recessive type 2L is a rare genetic disorder that causes muscle weakness and wasting in the hips and shoulders. Diagnosis typically involves a combination of physical examination, medical history, and genetic testing, including NGS genetic DNA testing. If you or a loved one is experiencing symptoms of LGMD, it is important to speak with a doctor to determine the underlying cause and appropriate treatment options.

If you're interested in getting an NGS genetic DNA test for ANO5 gene limb-girdle muscular dystrophy, autosomal recessive type 2L, contact DNA Labs India today to learn more about our testing services.