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SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic Genetic Test

4,400 د.إ

-21%

The SLC24A5 gene plays a critical role in the pigmentation of the skin, hair, and eyes, and mutations in this gene can lead to a form of albinism known as oculocutaneous albinism type 6 (OCA6). OCA6 is a nonsyndromic genetic condition, meaning it primarily affects pigmentation and does not significantly impact other bodily systems. Individuals with OCA6 typically present with lighter skin and hair color compared to non-affected family members, and may also experience vision problems, which are common in albinism due to the lack of melanin in the eyes.

Recognizing the importance of accurate diagnosis and understanding of this condition, DNA Labs UAE offers a genetic test specifically targeting the SLC24A5 gene to identify mutations associated with OCA6. The test is a crucial tool for families seeking to understand their genetic makeup, particularly for those with a history of albinism, as it can provide definitive confirmation of the condition and guide future family planning decisions.

The cost of the SLC24A5 gene albinism oculocutaneous nonsyndromic genetic test at DNA Labs UAE is 4400 AED. This test is conducted with state-of-the-art technology to ensure high accuracy and reliability of results. Upon completion, individuals receive a comprehensive report that not only details the presence of any mutations in the SLC24A5 gene but also offers insights into the implications of these genetic findings. This information can be invaluable for affected individuals and their families, offering them a clearer understanding of the condition and how to manage it moving forward.

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SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic Genetic Test

Welcome to DNA Labs UAE, where we offer the SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic Genetic Test. This test is designed to diagnose and identify the specific type of albinism associated with variations in the SLC24A5 gene. Read on to learn more about the test details, cost, symptoms, and diagnosis process.

Test Details

The SLC24A5 gene is associated with oculocutaneous albinism type 2 (OCA2), a rare genetic disorder characterized by reduced or absent melanin pigment in the skin, hair, and eyes. Our test uses NGS (next-generation sequencing) technology to analyze DNA and identify variations in the SLC24A5 gene that may be linked to albinism.

Components and Price

The cost of the SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic Genetic Test is AED 4400.0. The test requires a blood sample or extracted DNA, or just one drop of blood on an FTA card.

Report Delivery and Method

After the sample is collected, the report will be delivered within 3 to 4 weeks. Our lab uses NGS technology for this test, ensuring accurate and comprehensive results.

Test Type and Doctor

The SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic Genetic Test falls under the category of Ophthalmology Disorders. It is recommended to consult with an Ophthalmologist for this test.

Test Department and Pre Test Information

The SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic Genetic Test is conducted in our Genetics department. Prior to the test, it is important to provide the clinical history of the patient and attend a genetic counseling session. During the session, a pedigree chart will be drawn to identify any family members affected by the SLC24A5 Gene Albinism.

Diagnosis and Benefits of Genetic Testing

Genetic testing can help confirm a diagnosis of albinism and determine the specific type. It can also be useful for family members, as it identifies whether they carry the same genetic variation and are at risk of passing it on to their children. However, it’s important to note that genetic testing is not always necessary for a diagnosis, as physical symptoms and medical history can often be sufficient.

Considerations

It’s important to be aware that genetic testing may not be covered by insurance and can be expensive. It is recommended to consult with a healthcare provider to determine whether genetic testing is appropriate in your specific case.

At DNA Labs UAE, we strive to provide accurate and reliable genetic testing services. If you suspect albinism or have a family history of the condition, our SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic Genetic Test can provide valuable insights. Contact us today to schedule an appointment or for more information.

Test Name SLC24A5 Gene Albinism oculocutaneous nonsyndromic Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Ophthalmology Disorders
Doctor Ophthalmologist
Test Department: Genetics
Pre Test 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
Test Details

The SLC24A5 gene is associated with oculocutaneous albinism type 2 (OCA2), which is a rare genetic disorder characterized by reduced or absent melanin pigment in the skin, hair, and eyes. The SLC24A5 gene provides instructions for making a protein that is involved in the transport of ions across cell membranes, which is important for melanin production. Variations in this gene can lead to reduced melanin production, resulting in the symptoms of albinism.

NGS (next-generation sequencing) genetic testing is a type of genetic testing that uses advanced technology to sequence and analyze DNA. This type of testing can identify variations in the SLC24A5 gene that may be associated with albinism. NGS testing can provide a more comprehensive analysis of a person’s genetic makeup than traditional genetic testing methods.

If a person is suspected of having albinism, genetic testing can be helpful in confirming the diagnosis and determining the specific type of albinism. Genetic testing can also be useful for family members of a person with albinism, as it can identify whether they carry the same genetic variation and are at risk of passing it on to their children.

It is important to note that genetic testing is not always necessary for a diagnosis of albinism, as the condition can often be diagnosed based on physical symptoms and a medical history. Additionally, genetic testing may not be covered by insurance and can be expensive. A healthcare provider can help determine whether genetic testing is appropriate in a particular case.