TRICOTHIODYSTROPHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Trichothiodystrophy Panel is designed for the genetic diagnosis of this group of multisystemic inherited disorders characterized by brittle hair with low sulfur content, skin abnormalities, facial dysmorphism, developmental delay, photosensitivity, and, in some cases, growth failure and neurological abnormalities. The disease is associated with defects in genes involved in DNA repair and transcription, which explains the phenotypic variability and the possible overlap with other syndromes such as Cockayne syndrome or xeroderma pigmentosum. Genetic testing allows for confirmation of the clinical diagnosis, guides multidisciplinary management, and provides genetic counseling to affected families.
Genes analyzed: ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A.
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