98038-3
LOINC Code
| LOINC code | 98038-3 | |
|---|---|---|
| name | ||
| description | Reproductive carrier screening is performed during preconception or prenatally to determine the risk for passing on serious inherited genetic conditions to a child. Most carrier screening is for recessive disorders. This test includes screening for the following conditions: cystic fibrosis (CF, CFTR gene), fragile X (FXS, FMR1 gene), and spinal muscular atrophy (SMA, SMN1 gene). | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis | |
| property | Find = Finding | |
| 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 | Doc = Document: A document that could be in many formats (XML, narrative, etc.) | |
| method | Molgen = Molecular Genetics: General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods. | |
Additional Names | ||
| short name | ABC35; ABCC7; BCD541; Blood; CBAVD; CF; CFA; CFTR/MRP; CFTR+FMR1+SMN1 Mut Anl; Cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); dJ760C5.1; Document; Fin | |
Basic Attributes | ||
| class | MOLPATH | |
| type | 1 Laboratory | |
| order vs. observation | CFTR+FMR1+SMN1 | |
History/Usage | ||
| first released | ||
| last updated | 2.7 | |
| last change type | ADD - added | |
Related Names | ||
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