STICKLER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 10 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Stickler Syndrome panel is designed for the genetic study of this connective tissue disorder that primarily affects the eye, ear, joints, and orofacial system. Clinically, it is characterized by congenital high myopia, retinal detachment, sensorineural or conductive hearing loss, craniofacial anomalies (such as micrognathia and cleft palate), and early arthropathies. These manifestations result from mutations in genes that encode collagen types II, IX, and XI, which are essential for the structure of the vitreous humor, cartilage, and other connective tissues. Next-generation sequencing (NGS) analysis allows for confirmation of the diagnosis, determination of the inheritance pattern (autosomal dominant or recessive), and guidance of multidisciplinary clinical follow-up. Genes analyzed include: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, VCAN, BMP4, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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