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 NGS Genetic DNA Test

Albinism is a group of inherited genetic disorders that affect the production of melanin, the pigment that gives color to our skin, hair, and eyes. Oculocutaneous albinism type 4 (OCA4) is caused by mutations in the SLC45A2 gene. This gene provides instructions for making a protein called solute carrier family 45 member 2, which is involved in the transport of melanin pigment. Mutations in the SLC45A2 gene reduce the amount of melanin produced in the body, leading to the characteristic features of albinism.

Symptoms of Oculocutaneous Albinism Type 4

People with OCA4 have little or no melanin pigment in their skin, hair, and eyes. This can cause a range of symptoms, including:

• Very pale skin that burns easily in the sun
• White or very light-colored hair
• Pale blue or gray eyes
• Reduced visual acuity
• Nystagmus (involuntary eye movements)
• Photophobia (sensitivity to bright light)

Diagnosis of Oculocutaneous Albinism Type 4

OCA4 is diagnosed based on the presence of characteristic symptoms and genetic testing. A genetic test can identify mutations in the SLC45A2 gene that are associated with OCA4. This test can be performed using next-generation sequencing (NGS) technology, which allows for the simultaneous analysis of multiple genes and variants. NGS testing is highly accurate and can detect even rare genetic variants.

Cost of NGS Genetic DNA Test for Oculocutaneous Albinism Type 4

The cost of NGS genetic DNA testing for OCA4 in India is typically around INR 20,000. This cost may vary depending on the specific testing laboratory and any additional services that are included in the testing package.

Conclusion

Oculocutaneous albinism type 4 is a rare genetic disorder that can have significant effects on a person's appearance and vision. Genetic testing using NGS technology can accurately diagnose OCA4 and help individuals and their families better understand the condition. If you or a loved one are experiencing symptoms of OCA4, speak to a genetic counselor or healthcare provider to learn more about testing 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 SLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic DNA Test