32653-8LOINC 2.82
DYS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
DYS gene Mut Anl Bld/T
Definition
- Familial dysautonomia is a hereditary disorder affecting the autonomic nervous system.
Component
- DYS gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- Blood; DYS; Dysautonomia; ELP1; Familial dysatonomia; FD; Genetics; Heredity; Heritable; Identity or presence; IKAP; IKBKAP; IKI3; Inherited; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Random; Riley-Day syndrome; Tissue; Tissue, unspecified; TOT1; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- DYS
- DYS gene targeted mutation analysis
- Dysautonomia
- ELP1
- Familial dysatonomia
- FD
- Genetics
- Heredity
- Heritable
- Identity or presence
- IKAP
- IKBKAP
- IKI3
- Inherited
- inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- Nominal
- PCR
- Point in time
- Random
- Riley-Day syndrome
- Tissue
- Tissue, unspecified
- TOT1
- WB
- Whole blood
- Whole blood or Tissue