77751-6
LaboratoryTMEM216 gene c.218G>T [Presence] in Blood or Tissue by Molecular genetics method
Definition
The presence of the TMEM216 gene mutation c.218G>T (p.R73L, NM_001173990.1) is associated with Joubert syndrome type 2. Among Ashkenazi Jewish individuals, the carrier frequency is 1/92 (1.1%) and detection rate is approximately 99%. If negative, the patient's carrier risk is reduced from 1/92 to less than 1/9100 (0.01%).[PMID: 20036350]
LOINC 6-Axis Classification
Component
TMEM216 gene.c.218G>T
Property
PrThr
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Ord
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
TMEM216 c.218G>T Bld/T Ql
Display Name
TMEM216 gene c.218G>T Molgen Ql (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 77751-6?
LOINC code 77751-6 identifies "TMEM216 gene c.218G>T [Presence] in Blood or Tissue by Molecular genetics method". The presence of the TMEM216 gene mutation c.218G>T (p.R73L, NM_001173990.1) is associated with Joubert syndrome type 2. Among Ashkenazi Jewish individuals, the carrier frequency is 1/92 (1.1%) and detection rate is approximately 99%. If negative, the patient's carrier risk is reduced from 1/92 to less than 1/9100 (0.01%).[PMID: 20036350]
What does 77751-6 measure?
This code measures TMEM216 gene.c.218G>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.