98039-1

LOINC 2.82

Preconception AndOr prenatal carrier screening multigene analysis in Blood or Tissue by Molecular genetics method

Reproductive Carrier Multigene Anl Bld/T

Definition

  • Reproductive carrier screening is performed during preconception or prenatally to determine the risk for passing on serious inherited genetic conditions to a child. Most carrier screening is for recessive disorders. Common conditions screened for include cystic fibrosis (CF, CFTR gene), Duchenne/Becker muscular dystrophy (DMD/BMD, DMD gene), fragile X syndrome (FXS, FMR1 gene), and spinal muscular atrophy (SMA, SMN1 gene).

Component

  • Preconception &or prenatal carrier screening multigene analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Asympt; Asymptomatic; Blood; Document; Finding; Findings; Gene; Gene panel; Molecular genetics; Molecular pathology; MOLPATH; Multi-gene study; Multiple-gene panel test; PCR; Point in time; Random; Reproductive Carrier Multigene Anl; Scn; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Asympt
  • Asymptomatic
  • Blood
  • Document
  • Finding
  • Findings
  • Gene
  • Gene panel
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • Multi-gene study
  • Multiple-gene panel test
  • PCR
  • Point in time
  • Preconception &or prenatal carrier screening multigene analysis
  • Random
  • Reproductive Carrier Multigene Anl
  • Scn
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue