115590-2

TMEM216 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal

Active

Part Description

LP193292-2 TMEM216 gene
The TMEM216 (transmembrane protein 216) gene [HGNC Gene ID: 25018] is located on chromosome 11q13.1. This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010][NCBI Gene ID: 51259] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name: TMEM216 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name: TMEM216 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name: TMEM216 Mut Bld/T Mut Anl
Display Name: TMEM216 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info: TMEM216 gene mutations found, Blood or tissue specimen

Part Model Get Info

Component
TMEM216 gene mutations
LP453141-6
- Analyte
  TMEM216 gene mutations
  LP453141-6
  - Component Numerator
    TMEM216 gene mutations
    LP453141-6
    - Component Numerator Core
      TMEM216 gene
      LP193292-2
    - Component Numerator Core Suffix
      mutations
      LP452208-4
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Prid
LP6850-4
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Nom
LP7750-5
Method
Targeted gene mutation analysis
LP95475-7

Example Answer List: LL7597-9

Answer	Code	Score	Answer ID
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value)			LA6577-6
Variant			LA37192-4

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.83
Last Updated: Version 2.83 (ADD)
Order vs. Observation: Both

Formula (Readable)

If SMN1 is 2 AND the SMN1 SNP is not detected, or SMN1 is 3, >=3 or >=4 then DNR SMN2 Copy number in Gene result. IF SMN1 is 0, 1, or 2 AND the SMN1 SNP is detected, or SMN1 >=2 AND SNP is detected then report SMN2 copy number in Gene results

LOINC Terminology Service (API) using HL7^® FHIR^® Get Info

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=115590-2

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.