ALBINISM: CLINICAL EXOME PANEL (Sec. & CNVs) – 27 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Albinism panel analyzes 27 genes associated with the oculocutaneous, ocular, and syndromic forms of this genetic disease characterized by hypopigmentation of the skin, hair, and eyes, along with visual disturbances and, in some cases, systemic manifestations.
Through massive sequencing (NGS) with detection of SNVs, indels and CNVs, it is possible to identify variants in genes involved in the synthesis, transport and maturation of melanin, as well as in disorders of lysosomal trafficking.
Featured genes: TYR, OCA2, TYRP1, SLC45A2, GPR143, LYST, HPS1, HPS4, AP3B1.
You can consult the complete list of genes included in the panel by contacting Genotica.
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