Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC24A5 gene for Albinism, oculocutaneous nonsyndromic

PreTest Information

Clinical History of Patient who is going for SLC24A5 Gene Albinism, oculocutaneous nonsyndromic NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC24A5 Gene Albinism, oculocutaneous nonsyndromic NGS Genetic DNA Test gene SLC24A5

Detail Description

SLC24A5 Gene Albinism: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Albinism is a genetic disorder that affects the production of melanin, a pigment that gives color to our skin, hair, and eyes. People with albinism have little to no melanin, which results in their skin, hair, and eyes appearing lighter or completely white. Albinism can be caused by different genes, and one of the genes associated with this condition is SLC24A5.

SLC24A5 Gene

SLC24A5 is a gene that provides instructions for making a protein called solute carrier family 24 member 5. This protein is involved in the transport of ions across cell membranes, and it plays a crucial role in the production of melanin. A mutation in the SLC24A5 gene can lead to a decrease in melanin production, resulting in albinism.

Albinism Symptoms

Albinism can affect individuals in different ways, and the severity of the symptoms can vary. Some of the common symptoms of albinism include:

• Pale skin, hair, and eyes
• Sensitivity to light
• Poor eyesight
• Nystagmus (involuntary eye movement)
• Strabismus (crossed or wandering eyes)
• Astigmatism
• Farsightedness or nearsightedness

Diagnosis

Albinism is usually diagnosed based on the appearance of the individual's skin, hair, and eyes. An eye exam can also be performed to assess the individual's vision and look for any abnormalities. Genetic testing can be done to confirm the diagnosis and identify the specific gene mutation responsible for the condition.

NGS Genetic DNA Test Cost

NGS (Next Generation Sequencing) genetic DNA testing is a type of genetic testing that can be used to identify mutations in the SLC24A5 gene and other genes associated with albinism. The cost of NGS genetic DNA testing for albinism can vary depending on the testing facility and the specific tests performed. In India, the cost of NGS genetic DNA testing for albinism ranges from INR 15,000 to INR 25,000, with an average cost of INR 20,000.

Conclusion

Albinism is a genetic disorder that can affect individuals in different ways. SLC24A5 is one of the genes associated with this condition, and a mutation in this gene can lead to a decrease in melanin production and the development of albinism. Genetic testing, including NGS genetic DNA testing, can be used to confirm the diagnosis and identify the specific gene mutation responsible for the condition. If you suspect that you or someone you know may have albinism, it is important to consult a healthcare professional for proper diagnosis and treatment.

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 SLC24A5 Gene Albinism, oculocutaneous nonsyndromic NGS Genetic DNA Test