93200-4
LaboratoryEhlers-Danlos syndrome multigene analysis in Blood or Tissue by Molecular genetics method
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).
LOINC 6-Axis Classification
Component
Ehlers-Danlos syndrome multigene analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH
Order/Observation
Both
Short Name
EDS Multigene Anl Bld/T
Display Name
Ehlers-Danlos syndrome multigene analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 93200-4?
LOINC code 93200-4 identifies "Ehlers-Danlos syndrome multigene analysis in Blood or Tissue by Molecular genetics method". 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).
What does 93200-4 measure?
This code measures Ehlers-Danlos syndrome multigene analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.