Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC45A2 gene for Albinism, oculocutaneous type 4

PreTest Information

Clinical History of Patient who is going for SLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic DNA Test gene SLC45A2

Detail Description

SLC45A2 Gene Albinism, Oculocutaneous Type 4: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost at DNA Labs India

Albinism is a genetic disorder that causes a lack of pigmentation in the skin, hair, and eyes. There are different types of albinism, and oculocutaneous type 4 (OCA4) is caused by a mutation in the SLC45A2 gene. This gene provides instructions for making a protein that is involved in the production of melanin, the pigment that gives color to the skin, hair, and eyes.

Symptoms of OCA4

The main symptoms of OCA4 are:

• Very light skin that burns easily in the sun
• White or very light hair
• Very light eye color (blue, gray, or green)
• Poor eyesight or vision problems such as nystagmus (involuntary eye movement)

People with OCA4 may also have increased sensitivity to light and an increased risk of skin cancer.

Diagnosis of OCA4

OCA4 can be diagnosed through genetic testing. This involves analyzing a sample of DNA to look for mutations in the SLC45A2 gene. DNA Labs India offers NGS (Next Generation Sequencing) genetic DNA testing for OCA4. This test uses advanced technology to analyze multiple genes at once, providing more comprehensive and accurate results.

NGS Genetic DNA Test Cost at DNA Labs India

The cost of the NGS genetic DNA test for OCA4 at DNA Labs India is INR 20,000. This includes the cost of the test, as well as genetic counseling and interpretation of the results by a team of expert geneticists.

Genetic counseling is an important part of the testing process, as it can help individuals and families understand the implications of the test results and make informed decisions about their health. The genetic counselors at DNA Labs India are highly trained and experienced in working with patients and families affected by genetic disorders.

Conclusion

OCA4 is a rare genetic disorder that causes a lack of pigmentation in the skin, hair, and eyes. It can be diagnosed through genetic testing, and DNA Labs India offers NGS genetic DNA testing for OCA4 at a cost of INR 20,000. Genetic counseling is also available to help patients and families understand the implications of the test results and make informed decisions about their health.

If you suspect that you or a family member may have OCA4, talk to your doctor about genetic testing and contact DNA Labs India for more information about the NGS genetic DNA test.

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 SLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic DNA Test