73735-3
LOINC Code
| LOINC code | 73735-3 | |
|---|---|---|
| name | ||
| description | Mutations in the ACADVL gene are responsible for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency. Diagnostic testing is performed for at-risk individuals who have symptoms of VLCAD deficiency. Testing may also be performed for carrier screening of at-risk individuals in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or disease-causing mutations have not been identified. The submitter's lab performs DNA sequencing test for the presence of a mutation(s) in all 20 coding exons of the ACADVL gene. The answer list provide with the term is an example and not an complete representation of mutations that may be found. | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | ACADVL gene full mutation analysis | |
| property | Prid = Presence or identity: Prid stands for “Presence or identity”, is used for assays that detect whether or not an analyte of a particular kind is present, and if it is, to identify the specific analyte. | |
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | |
| system | Bld/Tiss Bld = Whole blood Tiss = Tissue, unspecified | |
| scale | Nom = Nominal: Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody. | |
| method | Sequencing | |
Additional Names | ||
| short name | ACAD6; ACADVL mut anl; acyl-CoA dehydrogenase, very long chain; Blood; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Identity or presence; Inherited; LCACD; Molecular pathology; MOLPATH; MOLPATH.MUTATI | |
Basic Attributes | ||
| class | MOLPATH.MUT | |
| type | 1 Laboratory | |
| order vs. observation | ACADVL Full Mut | |
History/Usage | ||
| first released | ||
| last updated | 2.63 | |
| last change type | MIN - change to field other than name | |
Related Names | ||
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