93200-4

LOINC 2.82

Ehlers-Danlos syndrome multigene analysis in Blood or Tissue by Molecular genetics method

EDS Multigene Anl Bld/T

Definition

  • This test includes analysis of multiple genes associated with Ehlers-Danlos Syndrome by molecular genetic methods, such as next generation sequencing and deletion/duplication analysis. Targeted genes include, but are not limited to, ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, and PLOD1. Other labs test more (or fewer) genes. The overall report typically includes the gene evaluated, variant(s) detected, interpretation, test methodology, and recommendations. Mayo website now lists 12 genes (previously 11). The count will likely increase (one lab does 18).

Component

  • Ehlers-Danlos syndrome multigene analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Blood; Document; EDS Multigene Anl; Finding; Findings; Gene; Gene panel; Molecular genetics; Molecular pathology; MOLPATH; Multi-gene study; Multiple-gene panel test; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Document
  • EDS Multigene Anl
  • Finding
  • Findings
  • Gene
  • Gene panel
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • Multi-gene study
  • Multiple-gene panel test
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue