Short Description

NGS genetic DNA test detecets for variant and mutation detection in CAPN1 gene for Muscular-skeletal disorder, CAPN1 related

PreTest Information

Clinical History of Patient who is going for CAPN1 Gene Muscular-skeletal disorder, CAPN1 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CAPN1 Gene Muscular-skeletal disorder, CAPN1 related

Detail Description

CAPN1 Gene Muscular-skeletal Disorder: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Are you or a loved one experiencing muscular-skeletal disorder symptoms? The CAPN1 gene could be the culprit. DNA Labs India offers a CAPN1-related next-generation sequencing (NGS) genetic DNA test for INR 20,000. Read on to learn more about CAPN1 gene-related muscular-skeletal disorders, their symptoms, diagnosis, and the NGS genetic DNA test cost.

What is the CAPN1 Gene?

The CAPN1 gene is responsible for producing a protein called calpain-1. This protein plays a role in maintaining muscle and skeletal structure and function. However, mutations in the CAPN1 gene can lead to muscular-skeletal disorders.

What are CAPN1 Gene-related Muscular-skeletal Disorders?

CAPN1 gene-related muscular-skeletal disorders are a group of genetic disorders that affect muscle and skeletal structure and function. These disorders include:

• Limb-girdle muscular dystrophy type 2A (LGMD2A)
• Spondyloepiphyseal dysplasia (SED)
• Ehlers-Danlos syndrome (EDS)

What are the Symptoms of CAPN1 Gene-related Muscular-skeletal Disorders?

The symptoms of CAPN1 gene-related muscular-skeletal disorders vary depending on the specific disorder. However, some common symptoms include:

• Muscle weakness
• Joint pain and stiffness
• Scoliosis (curvature of the spine)
• Difficulty walking or standing
• Difficulty breathing
• Loose or unstable joints

How are CAPN1 Gene-related Muscular-skeletal Disorders Diagnosed?

CAPN1 gene-related muscular-skeletal disorders are diagnosed through genetic testing. The CAPN1-related NGS genetic DNA test offered by DNA Labs India can detect mutations in the CAPN1 gene and identify the specific disorder present. This test is performed on a blood or saliva sample and costs INR 20,000.

Conclusion

If you or a loved one is experiencing symptoms of a muscular-skeletal disorder, the CAPN1 gene could be the cause. DNA Labs India offers a CAPN1-related NGS genetic DNA test for INR 20,000 to diagnose these disorders. Early diagnosis can lead to better treatment outcomes and improved quality of life for those affected.

The CAPN1 gene is associated with a muscular-skeletal disorder that is related to mutations or variations in the CAPN1 gene. This disorder can lead to muscle and skeletal abnormalities. Genetic testing using Next-Generation Sequencing (NGS) technology can be performed to identify mutations in the CAPN1 gene and confirm the diagnosis of the disorder.