35381-3

LOINC 2.82

HEXA gene c.IVS12+1G>C [Presence] in Blood or Tissue by Molecular genetics method

HEXA .c.IVS12+1G>C Bld/T Ql

Component

  • HEXA gene.c.IVS12+1G>C

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • beta-N-acetylhexosaminidase gene; Blood; Genetics; GIVS12C; GM2-gangliosidosis; Heredity; Heritable; HEXA .c.IVS12+1G>C; hexosaminidase A (alpha polypeptide); hexosaminidase A (alpha polypeptide) gene; Inherited; inversion 12; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; N-acetyl-beta-glucosaminidase gene; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Tay-Sachs disease; Tissue; Tissue, unspecified; TSD; WB; Whole blood; Whole blood or Tissue

Index terms

  • beta-N-acetylhexosaminidase gene
  • Blood
  • C
  • Genetics
  • GIVS12C
  • GM2-gangliosidosis
  • Heredity
  • Heritable
  • HEXA .c.IVS12+1G&gt
  • HEXA gene.c.IVS12+1G>C
  • hexosaminidase A (alpha polypeptide)
  • hexosaminidase A (alpha polypeptide) gene
  • Inherited
  • inversion 12
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • N-acetyl-beta-glucosaminidase gene
  • Ordinal
  • PCR
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • Tay-Sachs disease
  • Tissue
  • Tissue, unspecified
  • TSD
  • WB
  • Whole blood
  • Whole blood or Tissue