Sensorineural Hearing Loss
Hereditary Sensorineural Hearing Loss (SNHL) includes syndromic and non-syndromic forms. The syndromic forms of SNHL include Usher Syndrome, Pendred Syndrome, Waardenburg Syndrome, Jervell and Lange-Nielsen Syndromes, etc. Most cases of SNHL are nonsyndromic. SNHL can follow a pattern of autosomal dominant, autosomal recessive, X-linked recessive, or mitochondrial inheritance.
Asper Biotech’s hereditary hearing loss test enables comprehensive mutation detection in a number of genes linked to hereditary hearing loss. The test covers 246 mutations in multiple genes that underlie different types of nonsyndromic (GJB2, GJB6, GJB3, SLC26A5, SLC26A4, KCNQ4, TMC1, MYO15A, MYO7A, mitochondrial DNA) and certain syndromic (GJB2, SLC26A4) causes of hearing loss and deafness. In addition to microarray based testing we are also offering sequence analysis of the entire coding region and exon 1 donor splice junction of the GJB2 gene.
The genetic test enables to determine the molecular genetic basis of nonsyndromic and/or syndromic sensorineural hearing loss and provide genetic counseling for the family with a possibility of prenatal diagnosis. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
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Sensorineural Hearing Loss – read more
For further information:
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up
Gardner P, Oitmaa E, Messner A, Hoefsloot L, Metspalu A, Schrijver I.
Pediatrics. 2006 Sep; 118(3): 985-94.
Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss
Teek R, Oitmaa E, Kruustük K, Zordania R, Joost K, Raukas E, Tõnisson N, Gardner P, Schrijver I, Kull M, Ounap K.
Int J Pediatr Otorhinolaryngol. 2009 Jan; 73(1): 103-7. Epub 2008 Nov 22.
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