- Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes. It occurs when one of several genetic defects prevents the body from producing or distributing melanin, a natural substance that gives color to hair, skin, and the iris of the eye (1). This will lead to absence of color in the hair, skin, or iris of the eye or patchy missing skin color. Individuals affected may also display crossed eyes, light sensitivity, and vision problems (2). It is estimated that albinism affects one in every 17,000 individuals worldwide and affects people from all races (3). In familial types of albinism, the condition is passed from parents to their children through their genes. For most types of recessive albinisms, both parents must carry an albinism gene for the child to become affected with albinism. Parents can have normal pigmentation but still carry the gene, thus genetic testing and counseling is recommended to provide a detailed explanation of the disorder including the changes of future children being affected (3).
- Genes (30): AP3B1, BLOC1S3, BLOC1S6, C10orf11, CACNA1F, DTNBP1, EDN3, EDNRB, EPG5, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, and TYRP1
Test Code: 4001
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Albinism Panel
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81272×1, 81404×1, 81479×28
Pricing: Please contact us at (949) 916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
Related Tests: None