Albinism is a group of inherited disorders in which melanin biosynthesis is reduced or absent. The lack or reduction in pigment can affect the eyes, skin and hair, or only the eyes.  In addition, there are several syndromic forms of albinism  in  which the  hypopigmented  and  visual  phenotypes are seen in  addition to other systems involvement. This panel includes genes associated with various subtypes of albinism including Oculocutaneous albinism (OCA), Ocular albinism (OA), Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, and Griscelli syndrome. The panel includes sequence and deletion/duplication analysis of all the listed genes.  

Institutional Price 
$2,500.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
1101
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Any gene in the Albinism Panel can also be ordered individually. Please contact us directly for cost and CPT code information.