77748-2
LaboratoryPCDH15 gene c.733C>T [Presence] in Blood or Tissue by Molecular genetics method
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]
LOINC 6-Axis Classification
Component
PCDH15 gene.c.733C>T
Property
PrThr
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Ord
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
PCDH15 c.733C>T Bld/T Ql
Display Name
PCDH15 gene c.733C>T Molgen Ql (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 77748-2?
LOINC code 77748-2 identifies "PCDH15 gene c.733C>T [Presence] in Blood or Tissue by Molecular genetics method". 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]
What does 77748-2 measure?
This code measures PCDH15 gene.c.733C>T 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.