AutoICD API

71355-2

Laboratory

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

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.

LOINC 6-Axis Classification

Component

SLC26A5 gene.c.-53-2A>G

Property

PrThr

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Ord

Method Type

Molgen

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

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

Display Name

SLC26A5 gene c.-53-2A>G Molgen Ql (Bld/Tiss)

Related Names

Bloodc.-2A&gtGDeafness, autosomal recessive 61DFNB61GeneticsHeredityHeritableInheritedIVS2-2A&gtGMolecular geneticsMolecular pathologyMOLPATHMOLPATH.MUTATIONSOrdinalPCRPoint in timePRPRESQLQualQualitativeRandomScreenSensorineural hearing lossSLC26A5 c.-53-2A&gtGSNHLsolute carrier family 26 (anion exchanger), member 5Solute carrier family 26 member 5TissueTissue, unspecifiedWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 71355-2?

LOINC code 71355-2 identifies "SLC26A5 gene c.-53-2A>G [Presence] in Blood or Tissue by Molecular genetics method". 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.

What does 71355-2 measure?

This code measures SLC26A5 gene.c.-53-2A>G in Bld/Tiss. It belongs to the MOLPATH.MUT class in the LOINC classification.

What is LOINC?

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.