Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMK gene for Limb-girdle muscular dystrophy, autosomal recessive type 12C

PreTest Information

Clinical History of Patient who is going for POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C

Detail Description

POMK Gene Limb-girdle Muscular Dystrophy, Autosomal Recessive Type 12C NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Limb-girdle muscular dystrophy (LGMD) is a group of rare genetic disorders that affect the muscles in the hip and shoulder areas, leading to muscle weakness and wasting. One of the types of LGMD is the autosomal recessive type 12C, which is caused by mutations in the POMK gene. The POMK gene provides instructions for making a protein that is involved in the normal development and maintenance of muscle fibers.

Symptoms of POMK Gene Limb-girdle Muscular Dystrophy

The symptoms of POMK gene limb-girdle muscular dystrophy, autosomal recessive type 12C, usually appear in childhood or adolescence, although they can also begin in adulthood. Some of the common symptoms include:

• Muscle weakness and wasting in the hip and shoulder areas
• Difficulty climbing stairs, getting up from a chair, or lifting objects
• Difficulty standing or walking for long periods of time
• Toe walking
• Loss of muscle mass
• Contractures (abnormal shortening of muscles or tendons)
• Cardiac and respiratory involvement in some cases

Diagnosis of POMK Gene Limb-girdle Muscular Dystrophy

Diagnosis of POMK gene limb-girdle muscular dystrophy, autosomal recessive type 12C, is done through genetic testing. A DNA sample is taken from the patient, usually through a blood sample, and analyzed for mutations in the POMK gene. Next-generation sequencing (NGS) is a common genetic testing method used to identify mutations in the POMK gene.

Cost of POMK Gene Limb-girdle Muscular Dystrophy NGS Genetic DNA Test

The cost of POMK gene limb-girdle muscular dystrophy NGS genetic DNA test in India is approximately INR 20,000. The cost may vary depending on the testing facility and the location.

Conclusion

POMK gene limb-girdle muscular dystrophy, autosomal recessive type 12C, is a rare genetic disorder that affects the muscles in the hip and shoulder areas. Genetic testing using NGS is the most effective way to diagnose this condition. The cost of the test may vary depending on the testing facility, but it is an important step in identifying and managing this condition.

At DNA Labs India, we provide NGS genetic testing services for POMK gene limb-girdle muscular dystrophy and other genetic disorders. Our state-of-the-art testing facility and experienced genetic counselors ensure accurate and timely diagnosis of genetic disorders. Contact us today to learn more about our genetic testing services.

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 POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic DNA Test