COCKAYNE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes

LabGenetics
Caja de COCKAYNE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de COCKAYNE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes

Cockayne syndrome is an autosomal recessive multisystem disorder characterized by premature aging, postnatal growth retardation, microcephaly, photosensitivity, hearing loss, and progressive ophthalmopathy. Neurological manifestations include peripheral neuropathy, ataxia, and diffuse demyelination. This panel studies genes involved in transcription-dependent DNA repair, particularly within the nucleotide excision repair system.
Genes analyzed: ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, and others. You can consult the complete list of genes analyzed by contacting Genotica.

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