LOINC long common name : Preconception AndOr prenatal carrier screening multigene analysis in Blood or Tissue
by Molecular genetics method;
LOINC short name : Reproductive Carrier Multigene Anl Bld/T;
LOINC description : 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).;