Short Description

NGS genetic DNA test detecets for variant and mutation detection in RB1 gene for Hereditary Retinoblastoma

PreTest Information

Clinical History of Patient who is going for RB1 Gene Hereditary Retinoblastoma NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RB1 Gene Hereditary Retinoblastoma NGS Genetic DNA Test gene RB1

Detail Description

RB1 Gene Hereditary Retinoblastoma NGS Genetic DNA Test

Retinoblastoma is a type of cancer that forms in the retina, the light-sensitive tissue at the back of the eye. It usually affects young children, with about 250-300 new cases diagnosed in the United States each year. Hereditary retinoblastoma accounts for about 40% of all cases and is caused by mutations in the RB1 gene.

Symptoms of Hereditary Retinoblastoma

The symptoms of hereditary retinoblastoma can vary depending on the age of the child and the size and location of the tumor. Some common symptoms include:

• A white or yellowish glow in the pupil (leukocoria)
• A change in the color of the iris
• Poor vision or loss of vision
• Crossed eyes (strabismus)
• Eye redness or swelling

Diagnosis of Hereditary Retinoblastoma

If your child has any of these symptoms, it's important to see a doctor right away. The doctor will perform a complete eye exam and may order additional tests, such as:

• Ultrasound
• Magnetic resonance imaging (MRI)
• Computed tomography (CT) scan
• Biopsy

If the doctor suspects that your child has hereditary retinoblastoma, they may recommend genetic testing to confirm the diagnosis.

RB1 Gene Hereditary Retinoblastoma NGS Genetic DNA Test

The RB1 gene hereditary retinoblastoma NGS genetic DNA test is a type of genetic testing that looks for mutations in the RB1 gene. This test can help confirm a diagnosis of hereditary retinoblastoma and determine if the cancer is hereditary or non-hereditary.

The RB1 gene is located on chromosome 13 and provides instructions for making a protein that helps regulate cell growth and division. Mutations in the RB1 gene can disrupt this process and lead to the development of retinoblastoma.

The RB1 gene hereditary retinoblastoma NGS genetic DNA test is a highly accurate and reliable test that uses next-generation sequencing (NGS) technology to analyze the RB1 gene. The test can detect even small changes in the gene that may be missed by other types of genetic testing.

Cost of RB1 Gene Hereditary Retinoblastoma NGS Genetic DNA Test

The cost of RB1 gene hereditary retinoblastoma NGS genetic DNA test in India is around INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

If your child has symptoms of retinoblastoma, it's important to see a doctor right away. The RB1 gene hereditary retinoblastoma NGS genetic DNA test can help confirm a diagnosis of hereditary retinoblastoma and determine if the cancer is hereditary or non-hereditary. While the cost of the test may vary, it is a highly accurate and reliable test that can provide valuable information for treatment and management of the disease.

For more information about RB1 gene hereditary retinoblastoma NGS genetic DNA test and other genetic testing services, contact DNA Labs India.

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 RB1 Gene Hereditary Retinoblastoma NGS Genetic DNA Test