LOINC_NUM
stringlengths
3
8
COMPONENT
stringlengths
2
246
PROPERTY
stringlengths
1
29
TIME_ASPCT
stringlengths
1
15
SYSTEM
stringlengths
1
106
SCALE_TYP
stringclasses
10 values
METHOD_TYP
stringlengths
1
57
CLASS
stringlengths
2
24
CLASSTYPE
int64
1
4
LONG_COMMON_NAME
stringlengths
3
254
SHORTNAME
stringlengths
2
51
EXTERNAL_COPYRIGHT_NOTICE
stringlengths
39
2.6k
STATUS
stringclasses
4 values
VersionFirstReleased
stringlengths
1
7
VersionLastChanged
stringlengths
1
5
2168-3
Cryoglobulin
MCnc
Pt
Ser/Plas
Qn
null
CHEM
1
Cryoglobulin [Mass/volume] in Serum or Plasma
Cryoglob SerPl-mCnc
null
DISCOURAGED
1.0
2.73
21683-8
Gauchers disease type 2 gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
Gaucher 2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Gau2 gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21684-6
Gauchers disease type 3 gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
Gaucher 3 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Gau3 gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21685-3
HADHB gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HADHB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
HADHB gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.63
21686-1
HADHB gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HADHB gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
HADHB gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21687-9
HBA1 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HBA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
HBA1 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21688-7
HBA1 gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HBA1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
HBA1 gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.73
21689-5
HBB gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HBB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
HBB gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21690-3
HBB gene.p.Glu6Val
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
HBB gene p.Glu6Val [Presence] in Blood or Tissue by Molecular genetics method
HBB p.E6V Bld/T Ql
null
ACTIVE
1.0m
2.56
2169-1
Cobalamins renal clearance
VRat
24H
Urine+Ser/Plas
Qn
null
CHEM
1
Cobalamin (Vitamin B12) renal clearance in 24 hour Urine and Serum or Plasma
Vit B12 Cl 24h Ur+SerPl-vRate
null
ACTIVE
1.0
2.66
21691-1
HBB gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HBB gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
HBB gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.73
21692-9
PRSS1 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
PRSS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
PRSS1 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21693-7
Hereditary pancreatitis gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HP gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
HP gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21694-5
HFE gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HFE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
HFE gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21695-2
HFE gene.p.Cys282Tyr
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
HFE gene.p.Cys282Tyr [Presence] in Blood or Tissue by Molecular genetics method
HFE p.C282Y Bld/T Ql
null
ACTIVE
1.0m
2.73
21696-0
HFE gene.p.His63Asp
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
HFE gene p.His63Asp [Presence] in Blood or Tissue by Molecular genetics method
HFE p.H63D Bld/T Ql
null
ACTIVE
1.0m
2.73
21697-8
HFE gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HFE gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
HFE gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21698-6
HRAS gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
HRAS gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21699-4
HRAS gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
HRAS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
HRAS gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.27
217-0
Demeclocycline
Susc
Pt
Isolate
OrdQn
MIC
ABXBACT
1
Demeclocycline [Susceptibility] by Minimum inhibitory concentration (MIC)
Demeclocycline Islt MIC
null
ACTIVE
1.0
2.19
21700-0
Kallmann syndrome gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
Kallmann syndrome gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
KMS gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21701-8
Kallmann syndrome gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
Kallmann syndrome gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
KMS gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.67
21702-6
KRAS gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
KRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
KRAS gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21703-4
KRAS gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
KRAS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
KRAS gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.73
21704-2
MT-ATP6 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
MT-ATP6 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
MT-ATP6 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.63
21705-9
MT-ND4 gene.m.11696G>A
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
MT-ND4 gene m.11696G>A [Presence] in Blood or Tissue by Molecular genetics method
MT-ND4 m.11696G>A Bld/T Ql
null
ACTIVE
1.0m
2.56
21706-7
MT-ND4 gene.p.R304H
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
Deprecated MT-ND4 gene p.R304H [Presence] in Blood or Tissue by Molecular genetics method
Deprecated MT-ND4 p.R304h Bld/T Ql
null
DEPRECATED
1.0m
2.40
21707-5
MT-ND4 gene.p.Thr109Ala
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
MT-ND4 gene p.Thr109Ala [Presence] in Blood or Tissue by Molecular genetics method
MT-ND4 p.T109A Bld/T Ql
null
ACTIVE
1.0m
2.56
21708-3
MT-ATP6 gene.p.L156R
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
Deprecated MT-ATP6 gene p.L156R [Presence] in Blood or Tissue by Molecular genetics method
Deprecated MT-ATP6 p.L156R Bld/T Ql
null
DEPRECATED
1.0m
2.40
2170-9
Cyanocobalamin.true
MCnc
Pt
Ser
Qn
null
CHEM
1
Deprecated Cobalamin [Mass/volume] in Serum
Deprecated Cyanocobalamin.true Ser-mCnc
null
DEPRECATED
1.0
2.36
21709-1
MTHFR gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
MTHFR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
MTHFR gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21710-9
MTHFR gene.p.Ala677Val
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
Deprecated MTHFR gene p.Ala677Val [Presence] in Blood or Tissue by Molecular genetics method
Deprecated MTHFR p.A677V Bld/T Ql
null
DEPRECATED
1.0m
2.65
21711-7
MTHFR gene.p.Cys677Glu
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
Deprecated MTHFR gene p.Cys677Glu [Presence] in Blood or Tissue by Molecular genetics method
Deprecated MTHFR p.C677E Bld/T Ql
null
DEPRECATED
1.0m
2.65
21712-5
MTHFR gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
MTHFR gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
MTHFR gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.73
21713-3
MT-TK gene.m.8344A>G
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
MT-TK gene m.8344A>G [Presence] in Blood or Tissue by Molecular genetics method
MT-TK m.8344A>G Bld/T Ql
null
ACTIVE
1.0m
2.56
21714-1
MT-TL1 gene.m.3243A>G
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
MT-TL1 gene m.3243A>G [Presence] in Blood or Tissue by Molecular genetics method
MT-TL1 m.3243A>G Bld/T Ql
null
ACTIVE
1.0m
2.56
21715-8
MXI1 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
MXI1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
MXI1 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.63
21716-6
NB gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
NB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
NB gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.63
2171-7
Cobalamins.unsaturated binding capacity
MCnc
Pt
Ser/Plas
Qn
null
CHEM
1
Cobalamin (Vitamin B12).unsaturated Binding Capacity [Mass/volume] in Serum or Plasma
Vit B12 USB SerPl-mCnc
null
ACTIVE
1.0
2.73
21717-4
NF1 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
NF1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
NF1 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21718-2
NF1 gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
NF1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
NF1 gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21719-0
NRAS gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
NRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
NRAS gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21720-8
NRAS gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
NRAS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
NRAS gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21721-6
OTC gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
OTC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
OTC gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.63
21722-4
OTC gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
OTC gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
OTC gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21723-2
SERPINA1 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
SERPINA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
SERPINA1 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21724-0
SERPINA1 gene.p.Glu264Val
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
SERPINA1 gene p.Glu264Val [Presence] in Blood or Tissue by Molecular genetics method
SERPINA1 p.E264V Bld/T Ql
null
ACTIVE
1.0m
2.56
2172-5
Cystathionine
PrThr
Pt
Ser/Plas
Ord
null
CHEM
1
Cystathionine [Presence] in Serum or Plasma
Cystathionin SerPl Ql
null
ACTIVE
1.0
2.56
21725-7
SERPINA1 gene.p.Glu342Lys
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
SERPINA1 gene p.Glu342Lys [Presence] in Blood or Tissue by Molecular genetics method
SERPINA1 p.E342K Bld/T Ql
null
ACTIVE
1.0m
2.73
21726-5
SERPINA1 gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
SERPINA1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
SERPINA1 gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.73
21727-3
PMP22 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
PMP22 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
PMP22 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21728-1
PMP22 gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
PMP22 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
PMP22 gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.73
21729-9
PSAP gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
PSAP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
PSAP gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21730-7
PSAP gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
PSAP gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
PSAP gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21731-5
RB1 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
RB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
RB1 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.63
21732-3
RB1 gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
RB1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
RB1 gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
2173-3
Cystathionine
MCnc
Pt
Ser/Plas
Qn
null
CHEM
1
Cystathionine [Mass/volume] in Serum or Plasma
Cystathionin SerPl-mCnc
null
DISCOURAGED
1.0
2.73
21733-1
RET gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
RET gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
RET gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21734-9
RET gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
RET gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
RET gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.73
21735-6
SNCA gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
SNCA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
SNCA gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.63
21736-4
SNCA gene.p.Ala30Pro
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
SNCA gene p.Ala30Pro [Presence] in Blood or Tissue by Molecular genetics method
SNCA p.A30P Bld/T Ql
null
ACTIVE
1.0m
2.73
21737-2
SNCA gene.p.Ala53Thr
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.MUT
1
SNCA gene p.Ala53Thr [Presence] in Blood or Tissue by Molecular genetics method
SNCA p.A53T Bld/T Ql
null
ACTIVE
1.0m
2.56
21738-0
SNCA gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
SNCA gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
SNCA gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21739-8
TP53 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
TP53 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
TP53 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21740-6
TRAF3 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
TRAF3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
TRAF3 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.63
2174-1
Cystathionine
MCnc
Pt
Urine
Qn
null
CHEM
1
Cystathionine [Mass/volume] in Urine
Cystathionin Ur-mCnc
null
DISCOURAGED
1.0
2.73
21741-4
TRAF3 gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
TRAF3 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
TRAF3 gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21742-2
WT1 gene targeted mutation analysis
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
WT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
WT1 gene Mut Anl Bld/T
null
ACTIVE
1.0m
2.73
21743-0
WT1 gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
WT1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
WT1 gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.13
21744-8
CCND1 gene rearrangements
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.REARRANGE
1
CCND1 gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
CCND1 gene Rear Bld/T Ql
null
ACTIVE
1.0m
2.73
21745-5
BCL2 gene rearrangements
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.REARRANGE
1
Deprecated BCL2 gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
Deprecated BCL2 gene Rear Bld/T Ql
null
DEPRECATED
1.0m
2.36
21746-3
BCL6 gene rearrangements
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.REARRANGE
1
BCL6 gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
BCL6 gene Rear Bld/T Ql
null
ACTIVE
1.0m
2.73
21747-1
Immunoglobulin heavy chain gene rearrangements
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.REARRANGE
1
HC gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
HC gene Rear Bld/T Ql
null
ACTIVE
1.0m
2.73
21748-9
Immunoglobulin kappa light chain gene rearrangements
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.REARRANGE
1
Kappa LC gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
Kappa LC gene Rear Bld/T Ql
null
ACTIVE
1.0m
2.73
21749-7
Immunoglobulin lambda light chain gene rearrangements
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.REARRANGE
1
Lambda LC gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
Lambda LC gene Rear Bld/T Ql
null
ACTIVE
1.0m
2.21
21750-5
MYC gene rearrangements
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.REARRANGE
1
MYC gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
MYC gene Rear Bld/T Ql
null
ACTIVE
1.0m
2.73
21751-3
TCRB gene rearrangements
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.REARRANGE
1
TCRB gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
TCRB gene Rear Bld/T Ql
null
ACTIVE
1.0m
2.73
21752-1
TCRD gene rearrangements
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.REARRANGE
1
TCRD gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
TCRD gene Rear Bld/T Ql
null
ACTIVE
1.0m
2.21
21753-9
TCRG gene rearrangements
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.REARRANGE
1
TCRG gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
TCRG gene Rear Bld/T Ql
null
ACTIVE
1.0m
2.73
21754-7
AR gene.CAG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
AR gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method
AR gene CAG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
21755-4
CACNA1A gene.CAG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
CACNA1A gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method
CACNA1A gene CAG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.56
21756-2
ATN1 gene.CAG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
ATN1 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method
ATN1 gene CAG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
21757-0
DMPK gene.CTG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
DMPK gene CTG repeats [Presence] in Blood or Tissue by Molecular genetics method
DMPK gene CTG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
2175-8
Cystine
PrThr
Pt
Bld
Ord
null
CHEM
1
Cystine [Presence] in Blood
Cystine Bld Ql
null
ACTIVE
1.0
2.56
21759-6
FMR1 gene.CGG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
FMR1 gene CGG repeats [Presence] in Blood or Tissue by Molecular genetics method
FMR1 gene CGG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
21760-4
FRAXE gene.CGG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
FRAXE gene CGG repeats [Presence] in Blood or Tissue by Molecular genetics method
FRAXE gene CGG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
21761-2
FRAXE gene.CGG repeats
Arb
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.TRINUC
1
Deprecated FRAXE gene CGG repeats [Presence] in Blood or Tissue by Molecular genetics method
Deprecated FRAXE gene CGG Rpt Bld/T Ql
null
DEPRECATED
1.0m
2.36
21762-0
FXN gene.GAA repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
FXN gene GAA repeats [Presence] in Blood or Tissue by Molecular genetics method
FXN gene GAA Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
21763-8
HTT gene.CAG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
HTT gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method
HTT gene CAG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
21764-6
MJD gene.CAG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
MJD gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method
MJD gene CAG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
21765-3
SCA1 gene.CAG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
SCA1 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method
SCA1 gene CAG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
2176-6
Cystine
PrThr
Pt
Ser/Plas
Ord
null
CHEM
1
Cystine [Presence] in Serum or Plasma
Cystine SerPl Ql
null
ACTIVE
1.0
2.73
21766-1
SCA2 gene.CAG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
SCA2 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method
SCA2 gene CAG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
21767-9
SCA7 gene.CAG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
SCA7 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method
SCA7 gene CAG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.73
21768-7
Spinocerebellar ataxia gene mutations tested for
Prid
Pt
Bld/Tiss
Nom
Molgen
MOLPATH.MUT
1
SCA gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
SCA gene Mut Tested Bld/T
null
ACTIVE
1.0m
2.21
21769-5
Spinocerebellar ataxia genes.CAG repeats
PrThr
Pt
Bld/Tiss
Ord
Molgen
MOLPATH.NUCREPEAT
1
SCA genes CAG repeats [Presence] in Blood or Tissue by Molecular genetics method
SCA genes CAG Rpt Bld/T Ql
null
ACTIVE
1.0m
2.56
21770-3
Chromosome 12 trisomy
Arb
Pt
Bld/Tiss
Ord
Cytogenetics
MOLPATH.TRISOMY
1
Chromosome 12 trisomy [Presence] in Blood or Tissue by Cytogenetics
Chr 12 Ts Bld/T Ql
null
ACTIVE
1.0m
2.73
21771-1
Chromosome 21 trisomy
Arb
Pt
Bld/Tiss
Ord
Cytogenetics
MOLPATH.TRISOMY
1
Chromosome 21 trisomy [Presence] in Blood or Tissue by Cytogenetics
Chr 21 Ts Bld/T Ql
null
ACTIVE
1.0m
2.73
21772-9
Chromosome 7 trisomy
Arb
Pt
Bld/Tiss
Ord
Cytogenetics
MOLPATH.TRISOMY
1
Chromosome 7 trisomy [Presence] in Blood or Tissue by Cytogenetics
Chr 7 Ts Bld/T Ql
null
ACTIVE
1.0m
2.66
21773-7
Chromosome 8 trisomy
Arb
Pt
Bld/Tiss
Ord
Cytogenetics
MOLPATH.TRISOMY
1
Chromosome 8 trisomy [Presence] in Blood or Tissue by Cytogenetics
Chr 8 Ts Bld/T Ql
null
ACTIVE
1.0m
2.66