71355-2

LOINC 2.82

SLC26A5 gene c.-53-2A>G [Presence] in Blood or Tissue by Molecular genetics method

SLC26A5 c.-53-2A>G Bld/T Ql

Definition

  • The solute carrier family 26, member 5 (SLC26A5) gene encodes Prestin and contains 21 exons. A single nucleotide change in the second intron, known as IVS2-2A>G (NM_198999.1:c.-53-2A>G), is associated with Sensorineural Hearing Loss (SNHL). This term was created for, but not limited to, Asper Biotech's Sensorineural Hearing Loss (SNHL) microarray testing for this mutation.

Component

  • SLC26A5 gene.c.-53-2A>G

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • Blood; c.-2A>G; Deafness, autosomal recessive 61; DFNB61; Genetics; Heredity; Heritable; Inherited; IVS2-2A>G; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCR; Point in time; PR; PRES; QL; Qual; Qualitative; Random; Screen; Sensorineural hearing loss; SLC26A5 c.-53-2A>G; SNHL; solute carrier family 26 (anion exchanger), member 5; Solute carrier family 26 member 5; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • c.-2A&gt
  • Deafness, autosomal recessive 61
  • DFNB61
  • G
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • IVS2-2A&gt
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Ordinal
  • PCR
  • Point in time
  • PR
  • PRES
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • Sensorineural hearing loss
  • SLC26A5 c.-53-2A&gt
  • SLC26A5 gene.c.-53-2A>G
  • SNHL
  • solute carrier family 26 (anion exchanger), member 5
  • Solute carrier family 26 member 5
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue