77748-2

LOINC 2.82

PCDH15 gene c.733C>T [Presence] in Blood or Tissue by Molecular genetics method

PCDH15 c.733C>T Bld/T Ql

Definition

  • The presence of the PCDH15 gene mutation c.733C>T (NM_033056.3) is associated with Usher syndrome type 1F. Among Ashkenazi Jewish individuals, the carrier frequency is 1/147 (0.7%) and detection rate is greater than or equal to 75%. If negative, the patient's carrier risk is reduced from 1/147 to less than 1/585 (0.2%).[PMID: 20672374]

Component

  • PCDH15 gene.c.733C>T

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • Blood; CDHR15; DFNB23; Genetics; hearing loss; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCDH15 c.733C>T; PCR; Point in time; PR; protocadherin-related 15; Ql; Qual; Qualitative; Random; Screen; T prime; Tissue; Tissue, unspecified; USH1F; Usher syndrome type 1F; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • CDHR15
  • DFNB23
  • Genetics
  • hearing loss
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Ordinal
  • PCDH15 c.733C&gt
  • PCDH15 gene.c.733C>T
  • PCR
  • Point in time
  • PR
  • protocadherin-related 15
  • Ql
  • Qual
  • Qualitative
  • Random
  • Screen
  • T
  • T prime
  • Tissue
  • Tissue, unspecified
  • USH1F
  • Usher syndrome type 1F
  • WB
  • Whole blood
  • Whole blood or Tissue