94191-4
LOINC Code
| LOINC code | 94191-4 | |
|---|---|---|
| name | ||
| description | Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis (e.g. by multiplex ligation-dependent probe amplification) to evaluate for mutations and large deletions/duplications in the BRCA1 and BRCA2 genes. Testing is diagnostic for hereditary breast and ovarian cancer and used to identify a familial BRCA1 or BRCA2 mutation for future predictive testing in family members. | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | BRCA1+BRCA2 gene deletion+duplication & full 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 | Amplification; Ashkenazi jewish workup; Blood; BRCA; BRCC2; Breast cancer 2, early onset; BROVCA2; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; FACD; FAD; FAD1; FANCB; FANCD; FANCD1; Finding; Findings; full gene sequencing; Full Mut Anl; | |
Basic Attributes | ||
| class | MOLPATH | |
| type | 1 Laboratory | |
| order vs. observation | BRCA1+BRCA2 Del | |
History/Usage | ||
| first released | ||
| last updated | 2.68 | |
| last change type | ADD - added | |
Related Names | ||
Copyright © 2026 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2026, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.
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