" /> NIPA1 gene & REEP1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing - CISMeF





Preferred Label : NIPA1 gene & REEP1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : NIPA1 and REEP1 gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : NIPA1 and REEP1 gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : NIPA1 REEP1 Full Mut Anl Bld/T Seq;

LOINC description : Mutation analysis of the REEP1 (SPG31) and NIPA1 genes is performed in patients with an autosomal dominant inheritance pattern of a hereditary spastic paraplegia (HSP), especially if no mutation is found in the SPAST (SPG4) or ALT1 (SPG3A) genes. The submitter's lab performs mutation analysis of exons 1-7 and flanking intronic regions of the REEP1 gene and exons 2-5 and flanking intronic regions of the NIPA1 gene by sequencing methods.;

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30/07/2025


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