GPR143 Gene Albinism ocular type I Nettleship-Falls type Genetic Test
Components: GPR143 Gene Albinism ocular type I Nettleship-Falls type Genetic Test
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 GPR143 Gene Albinism, ocular type I, Nettleship-Falls type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GPR143 Gene Albinism, ocular type I, Nettleship-Falls type NGS Genetic DNA Test gene GPR143
Test Details: The GPR143 gene is associated with ocular albinism type I, also known as Nettleship-Falls type. This is a rare genetic condition that affects the eyes, causing reduced pigmentation and vision problems. The GPR143 gene provides instructions for making a protein that is involved in the development and function of melanocytes, which are the cells that produce melanin, the pigment that gives color to the skin, hair, and eyes. Mutations in the GPR143 gene can lead to a reduction or absence of melanin in the eyes, causing vision problems such as nystagmus (involuntary eye movements), strabismus (crossed or misaligned eyes), and reduced visual acuity. The severity of symptoms can vary widely, even among individuals with the same mutation. NGS genetic testing can detect mutations in the GPR143 gene and help diagnose ocular albinism type I. This type of testing uses advanced sequencing technology to analyze multiple genes at once, providing a comprehensive view of an individual’s genetic makeup. Genetic testing can also help identify carriers of the condition, which can be useful for family planning and genetic counseling.
Test Name | GPR143 Gene Albinism ocular type I Nettleship-Falls type Genetic Test |
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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 GPR143 Gene Albinism, ocular type I, Nettleship-Falls type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GPR143 Gene Albinism, ocular type I, Nettleship-Falls type NGS Genetic DNA Test gene GPR143 |
Test Details |
The GPR143 gene is associated with ocular albinism type I, also known as Nettleship-Falls type. This is a rare genetic condition that affects the eyes, causing reduced pigmentation and vision problems. The GPR143 gene provides instructions for making a protein that is involved in the development and function of melanocytes, which are the cells that produce melanin, the pigment that gives color to the skin, hair, and eyes. Mutations in the GPR143 gene can lead to a reduction or absence of melanin in the eyes, causing vision problems such as nystagmus (involuntary eye movements), strabismus (crossed or misaligned eyes), and reduced visual acuity. The severity of symptoms can vary widely, even among individuals with the same mutation. NGS genetic testing can detect mutations in the GPR143 gene and help diagnose ocular albinism type I. This type of testing uses advanced sequencing technology to analyze multiple genes at once, providing a comprehensive view of an individual’s genetic makeup. Genetic testing can also help identify carriers of the condition, which can be useful for family planning and genetic counseling. |