What does this LOINC code represent?

This LOINC code identifies a lab observation, measurement, question, or clinical concept in a standardized format.

Is this enough to understand my test result?

No. The code identifies the test or observation, but the interpretation depends on the actual result, reference range, and clinical context.

LOINCActiveBoth

LOINC Code 77751-6: TMEM216 gene c.218G>T Molgen Ql (Bld/Tiss)

Name: LOINC Code 77751-6: TMEM216 gene c.218G>T Molgen Ql (Bld/Tiss)
Creator: HealthAssure Clinical Team
Published: 2026-05-21T08:59:58.754Z

77751-6 is a LOINC code used to identify TMEM216 gene c.218G>T Molgen Ql (Bld/Tiss) in laboratory and clinical observation data. You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges. LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component TMEM216 gene.c.218G>T. It is commonly used with the system or sample type Bld/Tiss.

Reviewed by HealthAssure Clinical TeamUpdated 21 May 2026

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component TMEM216 gene.c.218G>T. It is commonly used with the system or sample type Bld/Tiss.

When is it used?

Used in lab systems, EHRs, and clinical data exchange.
May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
Status: ACTIVE
Order vs observation: Both
Method: Molgen

What it does not mean

The code identifies the observation or test, not the actual result.

Key facts

TMEM216 gene c.218G>T [Presence] in Blood or Tissue by Molecular genetics method

TMEM216 gene.c.218G>T

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%).[PMID20036350]

Blood; Cerebello-oculorenal Syndrome 2; Genetics; Heredity; Heritable; HSPC244; Inherited; Joubert Syndrome type 2; Meckel-Gruber Syndrome Type 2; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; T prime; Tissue; Tissue, unspecified; TMEM216 c.218G>T; transmembrane protein 216; WB; Whole blood; Whole blood or Tissue

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

TMEM216 gene c.218G>T Molgen Ql (Bld/Tiss)TMEM216 gene c.218G>T [Presence] in Blood or Tissue by Molecular genetics methodTMEM216 c.218G>T Bld/T QlTMEM216 gene.c.218G>TMOLPATH.MUTTMEM216 gene c.218G>T, Blood or tissue specimenPrThr

Frequently asked questions

Code details

Code77751-6

SystemLOINC

Display nameTMEM216 gene c.218G>T Molgen Ql (Bld/Tiss)

DescriptionTMEM216 gene.c.218G>T

Short nameTMEM216 c.218G>T Bld/T Ql

ComponentTMEM216 gene.c.218G>T

PropertyPrThr

TimingPt

System (specimen)Bld/Tiss

ScaleOrd

MethodMolgen

ClassMOLPATH.MUT

StatusACTIVE

Order/ObservationBoth

Flags

BillableNo

Valid clinical useNo

Source

SourceLOINC

Version2.82

Releasemain

First released2.52

Last changed2.73

Consumer names

TMEM216 gene c.218G>T, Blood or tissue specimen

Part names

TMEM216 gene.c.218G>TPrThrPtBld/TissOrdMolgenTMEM216 gene c.218G>TPresence or ThresholdPoint in time (spot)Blood or TissueMolecular genetics

About this content

This page is prepared by HealthAssure's clinical team using official coding standards from LOINC. AI tools assist with drafting explanations, which are then reviewed and verified by healthcare professionals for accuracy. This content is for informational purposes and does not replace professional medical advice. Meet our team.