75735-1

LOINC 2.82

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

BMPR1A Fam Mut Anl Bld/T

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.

Component

  • BMPR1A gene mutation analysis limited to known familial mutations

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • 10q23del; Activin A receptor, type II-like kinase 3; ACVRLK3; ALK3; Blood; bone morphogenetic protein receptor, type IA; CD292; Document; Fam Mut Anl; Finding; Findings; JPS; Juvenile polyposis syndrome; LMTED; LTD; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutation; Mutations; Muts; PCR; Point in time; Random; SKR5; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • 10q23del
  • Activin A receptor, type II-like kinase 3
  • ACVRLK3
  • ALK3
  • Blood
  • bone morphogenetic protein receptor, type IA
  • CD292
  • Document
  • Fam Mut Anl
  • Finding
  • Findings
  • JPS
  • Juvenile polyposis syndrome
  • LMTED
  • LTD
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • Mut
  • Mutation
  • Mutations
  • Muts
  • PCR
  • Point in time
  • Random
  • SKR5
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue