Short Description

NGS genetic DNA test detecets for variant and mutation detection in OCRL gene for Lowe oculocerebrorenal syndrome

PreTest Information

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

Detail Description

OCRL Gene Lowe Oculocerebrorenal Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Lowe oculocerebrorenal syndrome (OCRL) is a rare genetic disorder that affects males. It is caused by mutations in the OCRL gene, which provides instructions for making an enzyme that is involved in the regulation of cellular membranes. This disorder affects the eyes, kidneys, and brain, and is characterized by intellectual disability, cataracts, and renal tubular dysfunction.

Symptoms of OCRL Syndrome

The symptoms of OCRL syndrome vary widely, and can range from mild to severe. Some of the most common symptoms include:

• Intellectual disability
• Cataracts
• Renal tubular dysfunction
• Seizures
• Short stature
• Developmental delays
• Behavioral problems
• Abnormalities of the bones and teeth

Diagnosis of OCRL Syndrome

Diagnosis of OCRL syndrome is typically made through genetic testing. This can include a variety of different tests, including:

• Next-generation sequencing (NGS)
• Whole-exome sequencing (WES)
• Sanger sequencing
• Chromosomal microarray analysis (CMA)

Genetic testing can help to identify mutations in the OCRL gene, which can confirm a diagnosis of OCRL syndrome. It is important to work with a genetic counselor or other healthcare professional to determine the most appropriate testing approach.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS genetic DNA testing for OCRL syndrome in India is typically around INR 20,000. However, the cost of testing can vary depending on a variety of factors, including the specific testing approach used, the laboratory performing the testing, and any additional services or fees associated with the testing process.

Conclusion

OCRL syndrome is a rare genetic disorder that affects males and is caused by mutations in the OCRL gene. Symptoms can vary widely and may include intellectual disability, cataracts, and renal tubular dysfunction. Diagnosis is typically made through genetic testing, with NGS genetic DNA testing being a common approach. The cost of testing can vary, but is typically around INR 20,000 in India.

If you suspect that you or someone you know may have OCRL syndrome, it is important to speak with a healthcare professional to determine the most appropriate testing approach and treatment options.

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 OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic DNA Test