ZELLWEGER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 14 genes

LabGenetics
Caja de ZELLWEGER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 14 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de ZELLWEGER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 14 genes

The Zellweger Syndrome panel analyzes 14 genes involved in peroxisomal biogenesis disorders, a group of severe inherited metabolic diseases characterized by neonatal hypotonia, craniofacial dysmorphisms, seizures, hepatomegaly, and neurodevelopmental delay. These alterations result from mutations in PEX genes responsible for the formation and function of peroxisomes, organelles essential for the oxidation of very long-chain fatty acids and the metabolism of plasmalogens and bile acids. Some of the most relevant genes included in the panel are PEX1, PEX6, PEX10, PEX12, and PEX26.

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