94242-5
LOINC Code
| LOINC code | 94242-5 | |
|---|---|---|
| name | ||
| description | Full sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the NBTD gene to confirm a clinical diagnosis of biotinidase deficiency. Testing may also be performed on at-risk family members when there is a family history of biotinidase deficiency but a disease-causing mutation has not been previously identified.[GHR gene: NBTD] | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | BTD gene 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 | Sequencing | |
Additional Names | ||
| short name | biotinase; biotinidase; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point | |
Basic Attributes | ||
| class | MOLPATH | |
| type | 1 Laboratory | |
| order vs. observation | BTD gene Full M | |
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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