Short Description

NGS genetic DNA test detects for variant and mutation detection in C10ORF11 gene for Albinism, oculocutaneous type 5

PreTest Information

Clinical History of Patient who is going for C10ORF11 Gene Albinism, oculocutaneous type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with C10ORF11 Gene Albinism, oculocutaneous type 5 NGS Genetic DNA Test gene C10ORF11

Detail Description

C10ORF11 Gene Albinism, Oculocutaneous Type 5 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Albinism is a rare genetic disorder that affects the production of melanin, a pigment that gives color to the skin, hair, and eyes. Albinism can affect anyone, regardless of ethnicity or gender, and is caused by mutations in one of several genes. One of these genes is C10ORF11, which is associated with oculocutaneous type 5 albinism (OCA5).

Symptoms of OCA5

The symptoms of OCA5 can vary from person to person, but generally include:

• Very fair skin that burns easily in the sun
• White or very light-colored hair
• Light-colored eyes, often blue or gray
• Poor vision, including nearsightedness, farsightedness, and astigmatism
• Nystagmus, or involuntary eye movements
• Photophobia, or sensitivity to light

Diagnosis of OCA5

OCA5 is diagnosed based on clinical symptoms, family history, and genetic testing. A doctor may perform a physical exam to look for signs of albinism, such as very light skin and hair, and to check vision. Genetic testing can confirm a diagnosis of OCA5 by identifying mutations in the C10ORF11 gene.

NGS Genetic DNA Test for OCA5

NGS Genetic DNA testing is a type of genetic testing that can identify mutations in multiple genes, including C10ORF11, associated with albinism. The test involves analyzing a person's DNA sample to look for variations that may be causing the condition. The NGS Genetic DNA test for OCA5 can be performed on a blood or saliva sample and typically costs around INR 20,000.

Conclusion

C10ORF11 gene-associated albinism, OCA5, is a rare genetic disorder that affects the production of melanin, resulting in very light skin, hair, and eyes, as well as poor vision. Diagnosis of OCA5 involves a physical exam and genetic testing, including NGS Genetic DNA testing. If you or a loved one has symptoms of albinism, it's important to see a doctor for diagnosis and appropriate treatment.

At DNA Labs India, we offer NGS Genetic DNA testing for OCA5 and other genetic disorders. Our tests are accurate, reliable, and affordable, and we provide comprehensive genetic counseling to help you understand your results. Contact us today to learn more about our genetic testing services.

The C10ORF11 gene is associated with a specific type of albinism known as Oculocutaneous Albinism Type 5 (OCA5). The term "C10ORF11" refers to the name of the gene located on chromosome 10, and it is associated with this particular subtype of albinism.

Oculocutaneous Albinism (OCA) is a group of inherited genetic conditions that primarily affect the pigmentation of the eyes, hair, and skin. Individuals with OCA have reduced or absent melanin production, leading to characteristic features such as pale skin, light hair, and light-colored eyes. There are multiple types of OCA, each caused by mutations in different genes.

In the context of genetic testing for OCA, the term "NGS Genetic DNA Test" refers to Next-Generation Sequencing, a powerful technology used to analyze a person's DNA for mutations and variations in multiple genes simultaneously. This technology allows for the efficient screening of numerous genes associated with a specific condition in a single test.

For OCA5 specifically, a NGS Genetic DNA Test for the C10ORF11 gene would involve analyzing the DNA of an individual to identify mutations or variations within the C10ORF11 gene that are associated with OCA5. Detecting such mutations can provide a molecular diagnosis, helping to confirm whether an individual has OCA5 and guiding appropriate medical management and genetic counseling.

It's important to note that genetic testing, including NGS testing, requires expertise in genetics and clinical interpretation. A qualified genetic counselor or medical professional should be involved in the process to explain the implications of the test results and provide guidance based on the individual's unique situation. If you have concerns about albinism or genetic testing, consulting with a medical professional is advisable.