94221-9
LaboratorySMN1 gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequencing of the SMN1 gene, including all protein-coding regions and intron/exon boundaries of the gene. Testing is performed to confirm a diagnosis of spinal muscular atrophy (SMA) due to variants in SMN1 gene. This test is also used for at-risk family members who have a family history of spinal muscular atrophy but an affected individual is not available for testing, or when disease-causing mutations are unknown.
LOINC 6-Axis Classification
Component
SMN1 gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH
Order/Observation
Both
Short Name
SMN1 gene Full Mut Anl Bld/T Seq
Display Name
SMN1 gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94221-9?
LOINC code 94221-9 identifies "SMN1 gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequencing of the SMN1 gene, including all protein-coding regions and intron/exon boundaries of the gene. Testing is performed to confirm a diagnosis of spinal muscular atrophy (SMA) due to variants in SMN1 gene. This test is also used for at-risk family members who have a family history of spinal muscular atrophy but an affected individual is not available for testing, or when disease-causing mutations are unknown.
What does 94221-9 measure?
This code measures SMN1 gene full mutation 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.