Short Description

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

PreTest Information

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

Detail Description

FKRP Gene Limb-girdle Muscular Dystrophy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost at DNA Labs India

Limb-girdle muscular dystrophy (LGMD) is a group of inherited muscle disorders that cause weakness and wasting of the muscles in the hip and shoulder areas. There are several types of LGMD, each caused by a different genetic mutation. One of the rarest types is autosomal recessive type 2I (LGMD2I), which is caused by mutations in the FKRP gene.

What is the FKRP Gene?

The FKRP gene provides instructions for making a protein called fukutin-related protein. This protein is involved in the glycosylation of alpha-dystroglycan, a protein that is essential for the proper function of muscle cells. Mutations in the FKRP gene can interfere with the glycosylation process, leading to the muscle weakness and wasting seen in LGMD2I.

Symptoms of LGMD2I

The symptoms of LGMD2I typically appear in childhood or adolescence, although they can sometimes occur later in life. The most common symptoms include:

• Weakness and wasting of the muscles in the hip and shoulder areas
• Difficulty climbing stairs or rising from a sitting position
• Difficulty lifting objects
• Toe-walking or a waddling gait
• Frequent falls
• Delayed motor milestones (such as sitting, standing, and walking)

Diagnosing LGMD2I

LGMD2I is typically diagnosed through a combination of clinical evaluation, genetic testing, and muscle biopsy. During a clinical evaluation, the doctor will ask about the patient's symptoms, medical history, and family history of muscle disorders. They will also perform a physical exam to assess muscle strength and function.

Genetic testing can confirm the presence of mutations in the FKRP gene. This can be done through a variety of methods, including targeted gene sequencing, whole exome sequencing, or whole genome sequencing. DNA Labs India offers NGS genetic DNA testing for LGMD2I at a cost of INR 20,000.

Muscle biopsy may also be performed to assess the structure and function of muscle tissue. This can help distinguish LGMD2I from other types of muscular dystrophy.

NGS Genetic DNA Test at DNA Labs India

DNA Labs India offers NGS genetic DNA testing for LGMD2I at a cost of INR 20,000. This test uses next-generation sequencing technology to analyze the entire FKRP gene, allowing for highly accurate detection of mutations.

The test requires a small blood or saliva sample, which can be collected at one of DNA Labs India's many collection centers across the country. Results are typically available within 2-3 weeks.

Conclusion

LGMD2I is a rare type of muscular dystrophy caused by mutations in the FKRP gene. Symptoms typically appear in childhood or adolescence and include weakness and wasting of the muscles in the hip and shoulder areas. Diagnosis involves a combination of clinical evaluation, genetic testing, and muscle biopsy. DNA Labs India offers NGS genetic DNA testing for LGMD2I at a cost of INR 20,000, providing an accurate and efficient method for diagnosis.

For more information on LGMD2I and genetic testing, contact DNA Labs India today.

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 FKRP Gene Limb-girdle muscular dystrophy, autosomal recessive type 2I NGS Genetic DNA Test