MOLECULAR STUDY SENSORINEURAL HEARING LOSS (GJB2, GJB6, GJB3, SLC26A5, SLC26A4, KCNQ4, TMC1, MYO15A, MYO7A, mitochondrial DNA)APEX MUTATIONAL ARRAY, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4160

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Mutational array
Set Up Days:	Daily
Plazo de Entrega:	60 days
Information:
Deafness and hearing impairment have a genetic cause in at least half the cases. 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 underlying sensorineural hearing loss -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. Molecular genetic evaluation requires test a large number of mutations across multiple genes because the genetic heterogeneity. A diagnostic panel with 249 mutations in multiple genes is capable of simultaneous evaluation of multiple mutations 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.
Links:
Simultaneous Multigene Mutation Detection in Patients With Sensorineural Hearing Loss Through a Novel Diagnostic Microarray- A New Approach for Newborn Screening Follow-up
Splice variant IVS2-2A-G in t... [Int J Pediatr Otorhinolaryngol. 2009] - PubMed - NCBI
Syndromic Sensorineural Hearing Loss
OMIM Entry - + 603324 - GAP JUNCTION PROTEIN, BETA-3; GJB3
OMIM Entry - - 121011 - GAP JUNCTION PROTEIN, BETA-2; GJB2
OMIM Entry - - 276903 - MYOSIN VIIA; MYO7A
OMIM Entry - - 561000 - RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1
OMIM Entry - - 590080 - TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1
OMIM Entry - - 602666 - MYOSIN XVA; MYO15A
OMIM Entry - - 603537 - POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4
OMIM Entry - - 604418 - GAP JUNCTION PROTEIN, BETA-6; GJB6
OMIM Entry - - 604943 - SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5
OMIM Entry - - 605646 - SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4
OMIM Entry - - 606706 - TRANSMEMBRANE CHANNEL-LIKE PROTEIN 1; TMC1

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