" /> CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen - CISMeF





Preferred Label : CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis Molgen Doc (Bld/Tiss);

LOINC long common name : CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : CFTR FMR1 SMN1 Mut 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. This test includes screening for the following conditions: cystic fibrosis (CF, CFTR gene), fragile X (FXS, FMR1 gene), and spinal muscular atrophy (SMA, SMN1 gene).;

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28/07/2025


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