CONGENITAL CATARACTS: CLINICAL EXOME PANEL (Sec. & CNVs) - 175 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
A clinical exome panel designed for the genetic study of patients with suspected hereditary congenital cataracts, a leading cause of childhood blindness. This panel detects pathogenic variants and copy number variations (CNVs) in genes associated with isolated or syndromic forms of the disease. Congenital cataracts can be present at birth or develop in the first few months of life, manifesting as lens opacity, leukocoria, nystagmus, or amblyopia. This includes the study of genes related to lens structure and transparency (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYGD), intercellular communication and ocular metabolism (GJA3, GJA8, MIP, BFSP1, BFSP2, HSF4, PITX3, FOXE3), as well as genes involved in complex ocular syndromes and metabolic or peroxisomal diseases such as OCRL, NHS, PEX1, PEX6, FBN1, FOXC1, and others. This analysis allows for confirmation of the genetic cause, guidance in visual prognosis, facilitation of family genetic counseling, and evaluation of the possibility of specific therapies or clinical trials. For the complete panel of genes studied, please contact Genótica.
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