Short Description

NGS genetic DNA test detecets for variant and mutation detection in LONP1 gene for CODAS syndrome

PreTest Information

Clinical History of Patient who is going for LONP1 Gene CODAS syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LONP1 Gene CODAS syndrome NGS Genetic DNA Test gene LONP1

Detail Description

LONP1 Gene CODAS Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India offers comprehensive genetic testing services to help individuals and families identify the underlying causes of genetic disorders. One such disorder is CODAS syndrome, which is caused by mutations in the LONP1 gene. In this blog, we will discuss the symptoms, diagnosis, and cost of the NGS genetic DNA test for LONP1 gene CODAS syndrome offered by DNA Labs India.

What is CODAS Syndrome?

CODAS (Cerebral, Ocular, Dental, Auricular, and Skeletal) syndrome is a rare genetic disorder that affects multiple body systems. It is caused by mutations in the LONP1 gene, which provides instructions for making a protein that is involved in the breakdown and recycling of damaged proteins within cells. Mutations in this gene can lead to the buildup of damaged proteins, which can cause cellular damage and dysfunction.

Symptoms of CODAS Syndrome

CODAS syndrome affects different body systems, and the severity and specific symptoms can vary from person to person. Some common symptoms of CODAS syndrome include:

• Cognitive impairment and developmental delay
• Abnormalities in the eyes, such as cataracts, glaucoma, or retinal detachment
• Abnormalities in the teeth, such as missing or misshapen teeth
• Hearing loss or abnormalities in the ears
• Abnormalities in the bones and joints, such as scoliosis or joint stiffness

Diagnosis of CODAS Syndrome

Diagnosis of CODAS syndrome typically involves a combination of clinical evaluation, genetic testing, and imaging studies. A physical exam may reveal characteristic features of the disorder, such as dental abnormalities, hearing loss, or bone abnormalities. Genetic testing can confirm the presence of LONP1 gene mutations, which is the underlying cause of CODAS syndrome. Imaging studies, such as X-rays or MRI scans, can help identify any skeletal abnormalities or other structural abnormalities.

NGS Genetic DNA Test for LONP1 Gene CODAS Syndrome

DNA Labs India offers a next-generation sequencing (NGS) genetic DNA test for LONP1 gene CODAS syndrome. This test uses advanced sequencing technology to analyze the entire LONP1 gene and identify any mutations that may be present. The test is highly accurate and can detect even rare mutations that may be missed by other genetic testing methods.

Cost of NGS Genetic DNA Test for LONP1 Gene CODAS Syndrome

The cost of the NGS genetic DNA test for LONP1 gene CODAS syndrome offered by DNA Labs India is INR 20,000. This cost includes the genetic testing, interpretation of results, and genetic counseling services to help patients and their families understand the implications of the results.

Conclusion

CODAS syndrome is a rare genetic disorder that can have significant impacts on multiple body systems. Genetic testing can help identify the underlying cause of the disorder, which can lead to more accurate diagnosis and targeted treatment. The NGS genetic DNA test for LONP1 gene CODAS syndrome offered by DNA Labs India is a highly accurate and comprehensive genetic testing option that can help individuals and families get the answers they need.

For more information about genetic testing for CODAS syndrome or other genetic disorders, contact DNA Labs India today.