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Albinism Panel

Albinism is characterized by the total or partial absence of pigment in the eyes, skin and hair. It is inherited following an autosomal recessive pattern. Its population frequency is 1: 17,000 individuals. The DBGen Albinism Panel includes the study of the coding regions of 28 genes and 3 deep intronic mutations.

Main Pathologies


The panel includes the genes most often responsible for the following disorders:

  • Albinism

  • Oculocutaneous albinism

  • Hermansky-Pudlak syndrome

  • Waardenburg syndrome


Panel type and genes analyzed


SMALL

NGS Sequencing of all coding and splice regions, comprising at least 20 nucleotides of the intron regions flanking the exon-intron boundaries.

AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC38A8, SLC45A2, SNAI2, SOX10, TYR, TYRP1

NGS sequencing of reported mutations in non-coding regions:

GRP143 c.659-131T>G; HPS3 c.2888-1612G>A

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