Short Description

NGS genetic DNA test detecets for variant and mutation detection in WDR81 gene for Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2

PreTest Information

Clinical History of Patient who is going for WDR81 Gene Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with WDR81 Gene Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2

Detail Description

WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2 (CAMRQ2) is a rare genetic disorder that affects the cerebellum, the part of the brain responsible for coordinating movement and balance. It is caused by mutations in the WDR81 gene and is inherited in an autosomal recessive manner.

Symptoms

The symptoms of CAMRQ2 usually appear in early childhood and progressively worsen over time. The most common symptoms include:

• Difficulty walking and maintaining balance
• Delay in achieving developmental milestones
• Muscle weakness and stiffness
• Intellectual disability or mental retardation
• Speech and language difficulties
• Vision problems

Diagnosis

The diagnosis of CAMRQ2 is based on a combination of clinical evaluation, genetic testing, and imaging studies. A thorough neurological exam can reveal the characteristic symptoms of the disorder, including gait abnormalities and problems with balance and coordination.

Genetic testing is used to confirm the diagnosis and identify the specific mutation in the WDR81 gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing that allows for the simultaneous analysis of multiple genes, including WDR81. NGS testing is typically performed on a blood or saliva sample and can provide results within a few weeks.

NGS Genetic DNA Test Cost in India

The cost of an NGS genetic DNA test for CAMRQ2 in India can vary depending on the laboratory and the specific test ordered. On average, the cost ranges from INR 20,000 to INR 30,000. It is important to consult with a genetic counselor or healthcare provider to determine the most appropriate test and laboratory for your specific needs.

Conclusion

CAMRQ2 is a rare genetic disorder that can cause significant physical and intellectual disabilities. Early diagnosis and genetic testing are important for identifying the specific mutation and providing appropriate care and support for affected individuals and their families. NGS genetic DNA testing is a valuable tool for diagnosing CAMRQ2 and other genetic disorders, and can provide important information for treatment and management.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for CAMRQ2 and other genetic disorders. Our experienced team of genetic counselors and healthcare professionals can guide you through the testing process and provide personalized support and care.

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 WDR81 Gene Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2 NGS Genetic DNA Test