GLOBAL DEAFNESS/HEARING LOSS: CLINICAL EXOME PANEL (Sec. & CNVs) – 448 genes

LabGenetics
Caja de GLOBAL DEAFNESS/HEARING LOSS: CLINICAL EXOME PANEL (Sec. & CNVs) – 448 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de GLOBAL DEAFNESS/HEARING LOSS: CLINICAL EXOME PANEL (Sec. & CNVs) – 448 genes

The Global Deafness/Hearing Loss Panel is designed for the comprehensive molecular diagnosis of hereditary hearing loss, both syndromic and non-syndromic, with autosomal dominant, recessive, or X-linked inheritance patterns. Genetic hearing loss can manifest congenitally or progressively, affecting one or both ears, and may be accompanied by other clinical signs such as visual, renal, cutaneous, or neurological abnormalities, depending on the syndrome involved. This panel includes genes associated with the main subtypes of hearing loss, such as those related to GJB2/GJB6 (connexins), Usher syndrome, Waardenburg syndrome, auditory neuropathy, and ciliopathies, among others. The study allows for precise characterization of the type of hearing loss, facilitating auditory prognosis, the selection of therapeutic strategies (such as cochlear implants), and family genetic counseling.
Genes analyzed: GJB2, GJB6, MYO7A, CDH23, TECTA, SLC26A4, OTOF, TMC1, ESPN, STRC, and others. You can consult the complete list of genes analyzed by contacting Genotica.

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