94242-5
LaboratoryBTD gene full mutation analysis in Blood or Tissue by Sequencing
Definition
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]
LOINC 6-Axis Classification
Component
BTD gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH
Order/Observation
Both
Short Name
BTD gene Full Mut Anl Bld/T Seq
Display Name
BTD gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94242-5?
LOINC code 94242-5 identifies "BTD gene full mutation analysis in Blood or Tissue by Sequencing". 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]
What does 94242-5 measure?
This code measures BTD gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.