Short Description

NGS genetic DNA test detecets for variant and mutation detection in SIL1 gene for Cataract, congenital, associated with Marinesco-Sjogren Syndrome

PreTest Information

Clinical History of Patient who is going for SIL1 Gene Cataract, congenital, associated with Marinesco-Sjogren Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SIL1 Gene Cataract, congenital, associated with Marinesco-Sjogren Syndrome NGS Genetic DNA Test gene SIL1

Detail Description

SIL1 Gene Cataract, congenital, associated with Marinesco-Sjogren Syndrome NGS Genetic DNA Test

Cataracts are a common eye problem that affects millions of people worldwide. Congenital cataracts, which are present at birth, are less common but can have a significant impact on a child's vision. One of the genetic causes of congenital cataracts is the SIL1 gene, which is associated with Marinesco-Sjogren Syndrome (MSS). The good news is that a genetic DNA test is now available to help diagnose this condition, and DNA Labs India offers it at a cost of INR 20,000.

Symptoms of Marinesco-Sjogren Syndrome

MSS is a rare genetic disorder that affects multiple systems in the body. In addition to congenital cataracts, it is characterized by muscle weakness, ataxia (a lack of coordination), and intellectual disability. Other symptoms may include:

• Delayed development
• Short stature
• Speech difficulties
• Scoliosis (curvature of the spine)
• Joint stiffness
• Abnormalities in the brain, including white matter changes and cerebellar atrophy

Not all individuals with MSS will have all of these symptoms, and the severity can vary widely even within families.

Diagnosis of SIL1 Gene Cataract and Marinesco-Sjogren Syndrome

A genetic DNA test is the most accurate way to diagnose SIL1 gene cataract and MSS. This test looks for changes or mutations in the SIL1 gene that are associated with the condition. The test is performed using a small sample of blood or saliva, and the results can typically be obtained within a few weeks.

If a genetic test is not available or inconclusive, doctors may use other methods to diagnose MSS, such as physical exams, imaging studies, and developmental assessments.

NGS Genetic DNA Test for SIL1 Gene Cataract and Marinesco-Sjogren Syndrome

DNA Labs India offers a next-generation sequencing (NGS) genetic DNA test for SIL1 gene cataract and MSS. This test uses advanced technology to analyze multiple genes at once, which can help to identify other genetic causes of congenital cataracts or related conditions. The test is highly accurate and can be used for individuals of all ages.

Cost of SIL1 Gene Cataract and Marinesco-Sjogren Syndrome NGS Genetic DNA Test

The cost of the NGS genetic DNA test for SIL1 gene cataract and MSS is INR 20,000. This includes the cost of the test itself, as well as any pre- and post-test counseling that may be necessary.

Conclusion

Congenital cataracts can be a sign of underlying genetic conditions, such as Marinesco-Sjogren Syndrome. A genetic DNA test is the most accurate way to diagnose these conditions, and DNA Labs India offers a cost-effective NGS test for SIL1 gene cataract and MSS. If you or a loved one has congenital cataracts or other symptoms of MSS, talk to your doctor about whether genetic testing may be appropriate.

Remember, early diagnosis and treatment can help to improve outcomes and quality of life for individuals with genetic disorders.

For more information about SIL1 gene cataract and Marinesco-Sjogren Syndrome NGS Genetic DNA Test, 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 SIL1 Gene Cataract, congenital, associated with Marinesco-Sjogren Syndrome NGS Genetic DNA Test