97654-8
LaboratorySMN2 gene copy number in Blood or Tissue by Molecular genetics method
Definition
The SMN2 copy number varies from 0 to 3 copies in the population, with about 10-15% of unaffected individuals having no SMN2 gene. The SMN2 copy number does not impact the carrier status but rather influences severity of disease in patients with spinal muscular atrophy (SMA), where the presence of more copies is associated with milder disease.[PMID: 21673580]
LOINC 6-Axis Classification
Component
SMN2 gene copy number
Property
EntNum
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Qn
Method Type
Molgen
Details
Class
MOLPATH
Order/Observation
Both
Short Name
SMN2 copy num EntNum Bld/T
Display Name
SMN2 copy num Molgen (Bld/Tiss) [Entitic number]
Related Names
Frequently Asked Questions
What is LOINC code 97654-8?
LOINC code 97654-8 identifies "SMN2 gene copy number in Blood or Tissue by Molecular genetics method". The SMN2 copy number varies from 0 to 3 copies in the population, with about 10-15% of unaffected individuals having no SMN2 gene. The SMN2 copy number does not impact the carrier status but rather influences severity of disease in patients with spinal muscular atrophy (SMA), where the presence of more copies is associated with milder disease.[PMID: 21673580]
What does 97654-8 measure?
This code measures SMN2 gene copy number 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.