" /> Preconception &or prenatal carrier screening multigene analysis:Find:Pt:Bld/Tiss:Doc:Molgen - CISMeF





Preferred Label : Preconception &or prenatal carrier screening multigene analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : Preconception/Prenatal carrier screening multigene analysis Molgen Doc (Bld/Tiss);

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).;

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30/04/2025


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