CHONDRODYSPLASIA PUNCTATA: CLINICAL EXOME PANEL (Sec. & CNVs) – 13 genes

LabGenetics
Caja de CHONDRODYSPLASIA PUNCTATA: CLINICAL EXOME PANEL (Sec. & CNVs) – 13 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de CHONDRODYSPLASIA PUNCTATA: CLINICAL EXOME PANEL (Sec. & CNVs) – 13 genes

For punctate epiphyseal calcifications with dysmorphisms, cataracts, and cutaneous and/or peroxisomal involvement; distinguishes X-linked, autosomal, and plasmalogen biosynthesis forms. Genes analyzed: ARSE, EBP, PEX7, AGPS, GNPAT, and others. You can consult the complete list of analyzed genes by contacting Genotica.

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