LOINC Code 94221-9: SMN1 gene full mutation analysis Sequencing Doc (Bld/Tiss)

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component SMN1 gene full mutation analysis. It is commonly used with the system or sample type Bld/Tiss.

When is it used?

• Used in lab systems, EHRs, and clinical data exchange.
• May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
• Status: ACTIVE
• Order vs observation: Both
• Method: Sequencing

What it does not mean

• The code identifies the observation or test, not the actual result.

Key facts

• SMN1 gene full mutation analysis in Blood or Tissue by Sequencing
• SMN1 gene full mutation analysis
• 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.
• BCD541; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Gemin 1; GEMIN1; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Kugelberg-Welander disease; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; SMA; SMA gene; SMA@; SMA1; SMA2; SMA3; SMA4; SMN; SMNT; SMV; spinal muscular atrophy; Survival motor neuron protein gene; survival of motor neuron 1, telomeric; T-BCD541; TDRD16A; Tissue; Tissue, unspecified; WB; Werdnig-Hoffmann disease; Whole blood; Whole blood or Tissue

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

Frequently asked questions