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

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 primarily. It is caused by a mutation in the OCRL gene, which is responsible for producing an enzyme that plays a crucial role in the body's cellular transport system. This disorder is characterized by a range of symptoms affecting the eyes, kidneys, and brain. Early diagnosis of OCRL can help manage the symptoms and prevent complications.

Symptoms of OCRL

The symptoms of OCRL vary widely from person to person, and some individuals may not show any symptoms at all. However, the most common symptoms of this disorder include:

• Cloudy vision or cataracts
• Reduced vision or blindness
• Kidney problems, such as renal failure or kidney stones
• Developmental delays or intellectual disabilities
• Weak muscle tone or muscle spasms
• Seizures

It is essential to note that these symptoms are not unique to OCRL, and they may be present in other disorders as well. Therefore, it is crucial to undergo genetic testing to confirm the diagnosis.

Diagnosis of OCRL

The diagnosis of OCRL involves a combination of clinical examination, medical history, and genetic testing. The doctor may perform a physical examination and check for signs of cataracts, kidney problems, and developmental delays. They may also ask about the family history of the disorder and order some tests to check the kidney function and electrolyte levels.

The most reliable method of diagnosing OCRL is through genetic testing. Next-generation sequencing (NGS) is a state-of-the-art technology that can analyze the entire OCRL gene and identify any mutations or alterations in the DNA sequence. The NGS genetic DNA test cost for OCRL in India is typically around INR 20,000, depending on the lab and location.

Management of OCRL

There is currently no cure for OCRL, and the treatment mainly focuses on managing the symptoms and preventing complications. For example, cataract surgery can improve vision, and medication can help manage seizures. Kidney stones can be treated with medication or surgery, depending on their size and location.

Individuals with OCRL may also benefit from physical therapy, occupational therapy, and speech therapy to improve their muscle strength, coordination, and communication skills. Regular check-ups with a doctor and genetic counselor can also help monitor the symptoms and provide guidance on managing the disorder.

Conclusion

OCRL is a rare genetic disorder that affects multiple body systems, including the eyes, kidneys, and brain. Early diagnosis through genetic testing is crucial for managing the symptoms and preventing complications. The NGS genetic DNA test cost for OCRL in India is typically around INR 20,000. While there is currently no cure for this disorder, proper management can help individuals lead a better quality of life.

If you suspect that you or your child may have OCRL, please consult with a doctor or genetic counselor to discuss the appropriate testing and treatment options.

Visit DNA Labs India for more information on genetic testing and counseling services.

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