94207-8LOINC 2.82
MMADHC gene full mutation analysis in Blood or Tissue by Sequencing
MMADHC Full Mut Anl Bld/T Seq
Definition
- Full gene sequence analysis to identify a mutation in the coding regions and intron/exon boundaries of the MMADHC gene. Testing may be performed for the diagnosis of methylmalonic acidemia with homocystinuria (type cblD).[GHR gene: MMADHC]
Component
- MMADHC gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; C2orf25; cblD; CL25022; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; metabolism of cobalamin associated D; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- C2orf25
- cblD
- CL25022
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- metabolism of cobalamin associated D
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- Next generation sequencing
- NGS
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue