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.;
Has component