AutoICD API

75735-1

Laboratory

BMPR1A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

Definition

Predictive testing for juvenile polyposis syndrome where a point mutation or small insertion, deletion, or duplication has been identified previously in an affected family member.

LOINC 6-Axis Classification

Component

BMPR1A gene mutation analysis limited to known familial mutations

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

Molgen

Details

Class

MOLPATH

Order/Observation

Both

Short Name

BMPR1A Fam Mut Anl Bld/T

Display Name

BMPR1A gene familial mut analysis Molgen Doc (Bld/Tiss)

Related Names

10q23delActivin A receptor, type II-like kinase 3ACVRLK3ALK3Bloodbone morphogenetic protein receptor, type IACD292DocumentFam Mut AnlFindingFindingsJPSJuvenile polyposis syndromeLMTEDLTDMolecular geneticsMolecular pathologyMOLPATHMutMutationMutationsMutsPCRPoint in timeRandomSKR5TissueTissue, unspecifiedWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 75735-1?

LOINC code 75735-1 identifies "BMPR1A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method". Predictive testing for juvenile polyposis syndrome where a point mutation or small insertion, deletion, or duplication has been identified previously in an affected family member.

What does 75735-1 measure?

This code measures BMPR1A gene mutation analysis limited to known familial mutations in Bld/Tiss. It belongs to the MOLPATH 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.