21727-3LOINC 2.82
PMP22 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
PMP22 gene Mut Anl Bld/T
Component
- PMP22 gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- Blood; Charcot-Marie Tooth disease; CMT; CMT1A; CMT1E; Dejerine-Sottas syndrome; DSS; GAS3; GAS-3; Genetics; Growth arrest specific gene 3; Hereditary neuropathy with liability to pressure palsies; Heredity; Heritable; HMSNIA; HNPP; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Peripheral myelin protein 22; PMP-22; Point in time; Random; Sp110; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Charcot-Marie Tooth disease
- CMT
- CMT1A
- CMT1E
- Dejerine-Sottas syndrome
- DSS
- GAS-3
- GAS3
- Genetics
- Growth arrest specific gene 3
- Hereditary neuropathy with liability to pressure palsies
- Heredity
- Heritable
- HMSNIA
- HNPP
- Identity or presence
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- Nominal
- PCR
- Peripheral myelin protein 22
- PMP-22
- PMP22 gene targeted mutation analysis
- Point in time
- Random
- Sp110
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue