USHER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 25 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Usher Syndrome panel studies the genetic causes of the most common form of inherited deafblindness, characterized by congenital sensorineural hearing loss associated with retinitis pigmentosa and, in some cases, vestibular impairment. It includes genes involved in the function of the auditory sensory epithelium and retina, alterations in which lead to progressive dysfunction of photoreceptors and hair cells. Molecular analysis allows for the classification of the different clinical subtypes (Usher type I, II, and III), confirmation of the autosomal recessive inheritance pattern, and the provision of genetic counseling and visual prognosis. Genes analyzed include: MYO7A, USH2A, CDH23, PCDH15, ADGRV1, and others. You can consult the complete list of analyzed genes by contacting Genotica.
Other tests
Preventive health test - AboutMe EXOME
545,00€
NEUROFIBROMATOSIS: GENES SMARCB1 Y LZTR1 (NGS-Sec) – ATG Medical
600,00€
Custom sequencing panels (1 to 15 genes)
660,00€