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Genetic analysis

32 Formulär  
GENETIC DISPOSITION
Beskrivning

GENETIC DISPOSITION

Date of analysis
Beskrivning

gd_date

Datatyp

date

Genetic analysis
Beskrivning

Genetic analysis

Is there any pathogenic (class 5) or likely pathogenic (class 4) mutation in a predisposing gene?
Beskrivning

gd_mutation

Datatyp

integer

Gene ID
Beskrivning

gd_mutationgeneid

Datatyp

text

Mutation genomic (g.)
Beskrivning

gd_mutationgeneid_genom

Datatyp

integer

Mutation on cDNA (c.)
Beskrivning

gd_mutationgeneid_cdna

Datatyp

integer

Other
Beskrivning

gd_mutationgeneid_other

Datatyp

integer

Genetic traits
Beskrivning

gd_genetictraits

Datatyp

text

Molecular/Genetic tests Intron spanning sequencing
Beskrivning

gd_genetictest_Intron spanning sequencing

Datatyp

integer

SNPs genotyping
Beskrivning

gd_genetictest_SNPs genotyping

Datatyp

integer

Multiplex PCR
Beskrivning

gd_genetictest_Multiplex PCR

Datatyp

integer

Sanger sequencing
Beskrivning

gd_genetictest_Sanger sequencing

Datatyp

integer

WES
Beskrivning

gd_genetictest_WES

Datatyp

integer

WGS
Beskrivning

gd_genetictest_WGS

Datatyp

integer

Karyotyping
Beskrivning

gd_genetictest_Karyotyping

Datatyp

integer

FISH
Beskrivning

gd_genetictest_FISH

Datatyp

integer

Gene ID
Beskrivning

gd_mutationgeneid2

Datatyp

text

Mutation genomic (g.)
Beskrivning

gd_mutationgeneid_genom2

Datatyp

integer

Mutation on cDNA (c.)
Beskrivning

gd_mutationgeneid_cdna2

Datatyp

integer

Other
Beskrivning

gd_mutationgeneid_other2

Datatyp

integer

Genetic traits
Beskrivning

gd_genetictraits2

Datatyp

text

Molecular/Genetic tests Intron spanning sequencing
Beskrivning

gd_genetictest2_Intron spanning sequencing

Datatyp

integer

SNPs genotyping
Beskrivning

gd_genetictest2_SNPs genotyping

Datatyp

integer

Multiplex PCR
Beskrivning

gd_genetictest2_Multiplex PCR

Datatyp

integer

Sanger sequencing
Beskrivning

gd_genetictest2_Sanger sequencing

Datatyp

integer

WES
Beskrivning

gd_genetictest2_WES

Datatyp

integer

WGS
Beskrivning

gd_genetictest2_WGS

Datatyp

integer

Karyotyping
Beskrivning

gd_genetictest2_Karyotyping

Datatyp

integer

FISH
Beskrivning

gd_genetictest2_FISH

Datatyp

integer

Gene ID
Beskrivning

gd_mutationgeneid3

Datatyp

text

Mutation genomic (g.)
Beskrivning

gd_mutationgeneid_genom3

Datatyp

integer

Mutation on cDNA (c.)
Beskrivning

gd_mutationgeneid_cdna3

Datatyp

integer

Other
Beskrivning

gd_mutationgeneid_other3

Datatyp

integer

Genetic traits
Beskrivning

gd_genetictraits3

Datatyp

text

Molecular/Genetic tests Intron spanning sequencing
Beskrivning

gd_genetictest3_Intron spanning sequencing

Datatyp

integer

SNPs genotyping
Beskrivning

gd_genetictest3_SNPs genotyping

Datatyp

integer

Multiplex PCR
Beskrivning

gd_genetictest3_Multiplex PCR

Datatyp

integer

Sanger sequencing
Beskrivning

gd_genetictest3_Sanger sequencing

Datatyp

integer

WES
Beskrivning

gd_genetictest3_WES

Datatyp

integer

WGS
Beskrivning

gd_genetictest3_WGS

Datatyp

integer

Karyotyping
Beskrivning

gd_genetictest3_Karyotyping

Datatyp

integer

FISH
Beskrivning

gd_genetictest3_FISH

Datatyp

integer

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Similar models

Genetic analysis

32 Formulär
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
gd_date
Item
Date of analysis
date
Item
Is there any pathogenic (class 5) or likely pathogenic (class 4) mutation in a predisposing gene?
integer
gd_mutation
Code List
Is there any pathogenic (class 5) or likely pathogenic (class 4) mutation in a predisposing gene?
CL Item
Yes (1)
CL Item
No (0)
gd_mutationgeneid
Item
Gene ID
text
Item
Mutation genomic (g.)
integer
gd_mutationgeneid_genom
Code List
Mutation genomic (g.)
CL Item
Yes (1)
CL Item
No (0)
Item
Mutation on cDNA (c.)
integer
gd_mutationgeneid_cdna
Code List
Mutation on cDNA (c.)
CL Item
Yes (1)
CL Item
No (0)
Item
Other
integer
gd_mutationgeneid_other
Code List
Other
CL Item
Yes (1)
CL Item
No (0)
Item
Genetic traits
text
gd_genetictraits
Code List
Genetic traits
CL Item
Homozygote (homozygote)
CL Item
Heterozygote (heterozygote)
CL Item
Unknown (unknown)
Item
Molecular/Genetic tests Intron spanning sequencing
integer
gd_genetictest_Intron spanning sequencing
Code List
Molecular/Genetic tests Intron spanning sequencing
CL Item
Yes (1)
CL Item
No (0)
Item
SNPs genotyping
integer
gd_genetictest_SNPs genotyping
Code List
SNPs genotyping
CL Item
Yes (1)
CL Item
No (0)
Item
Multiplex PCR
integer
gd_genetictest_Multiplex PCR
Code List
Multiplex PCR
CL Item
Yes (1)
CL Item
No (0)
Item
Sanger sequencing
integer
gd_genetictest_Sanger sequencing
Code List
Sanger sequencing
CL Item
Yes (1)
CL Item
No (0)
Item
WES
integer
gd_genetictest_WES
Code List
WES
CL Item
Yes (1)
CL Item
No (0)
Item
WGS
integer
gd_genetictest_WGS
Code List
WGS
CL Item
Yes (1)
CL Item
No (0)
Item
Karyotyping
integer
gd_genetictest_Karyotyping
Code List
Karyotyping
CL Item
Yes (1)
CL Item
No (0)
Item
FISH
integer
gd_genetictest_FISH
Code List
FISH
CL Item
Yes (1)
CL Item
No (0)
gd_mutationgeneid2
Item
Gene ID
text
Item
Mutation genomic (g.)
integer
gd_mutationgeneid_genom2
Code List
Mutation genomic (g.)
CL Item
Yes (1)
CL Item
No (0)
Item
Mutation on cDNA (c.)
integer
gd_mutationgeneid_cdna2
Code List
Mutation on cDNA (c.)
CL Item
Yes (1)
CL Item
No (0)
Item
Other
integer
gd_mutationgeneid_other2
Code List
Other
CL Item
Yes (1)
CL Item
No (0)
Item
Genetic traits
text
gd_genetictraits2
Code List
Genetic traits
CL Item
Homozygote (homozygote)
CL Item
Heterozygote (heterozygote)
CL Item
Unknown (unknown)
Item
Molecular/Genetic tests Intron spanning sequencing
integer
gd_genetictest2_Intron spanning sequencing
Code List
Molecular/Genetic tests Intron spanning sequencing
CL Item
Yes (1)
CL Item
No (0)
Item
SNPs genotyping
integer
gd_genetictest2_SNPs genotyping
Code List
SNPs genotyping
CL Item
Yes (1)
CL Item
No (0)
Item
Multiplex PCR
integer
gd_genetictest2_Multiplex PCR
Code List
Multiplex PCR
CL Item
Yes (1)
CL Item
No (0)
Item
Sanger sequencing
integer
gd_genetictest2_Sanger sequencing
Code List
Sanger sequencing
CL Item
Yes (1)
CL Item
No (0)
Item
WES
integer
gd_genetictest2_WES
Code List
WES
CL Item
Yes (1)
CL Item
No (0)
Item
WGS
integer
gd_genetictest2_WGS
Code List
WGS
CL Item
Yes (1)
CL Item
No (0)
Item
Karyotyping
integer
gd_genetictest2_Karyotyping
Code List
Karyotyping
CL Item
Yes (1)
CL Item
No (0)
Item
FISH
integer
gd_genetictest2_FISH
Code List
FISH
CL Item
Yes (1)
CL Item
No (0)
gd_mutationgeneid3
Item
Gene ID
text
Item
Mutation genomic (g.)
integer
gd_mutationgeneid_genom3
Code List
Mutation genomic (g.)
CL Item
Yes (1)
CL Item
No (0)
Item
Mutation on cDNA (c.)
integer
gd_mutationgeneid_cdna3
Code List
Mutation on cDNA (c.)
CL Item
Yes (1)
CL Item
No (0)
Item
Other
integer
gd_mutationgeneid_other3
Code List
Other
CL Item
Yes (1)
CL Item
No (0)
Item
Genetic traits
text
gd_genetictraits3
Code List
Genetic traits
CL Item
Homozygote (homozygote)
CL Item
Heterozygote (heterozygote)
CL Item
Unknown (unknown)
Item
Molecular/Genetic tests Intron spanning sequencing
integer
gd_genetictest3_Intron spanning sequencing
Code List
Molecular/Genetic tests Intron spanning sequencing
CL Item
Yes (1)
CL Item
No (0)
Item
SNPs genotyping
integer
gd_genetictest3_SNPs genotyping
Code List
SNPs genotyping
CL Item
Yes (1)
CL Item
No (0)
Item
Multiplex PCR
integer
gd_genetictest3_Multiplex PCR
Code List
Multiplex PCR
CL Item
Yes (1)
CL Item
No (0)
Item
Sanger sequencing
integer
gd_genetictest3_Sanger sequencing
Code List
Sanger sequencing
CL Item
Yes (1)
CL Item
No (0)
Item
WES
integer
gd_genetictest3_WES
Code List
WES
CL Item
Yes (1)
CL Item
No (0)
Item
WGS
integer
gd_genetictest3_WGS
Code List
WGS
CL Item
Yes (1)
CL Item
No (0)
Item
Karyotyping
integer
gd_genetictest3_Karyotyping
Code List
Karyotyping
CL Item
Yes (1)
CL Item
No (0)
Item
FISH
integer
gd_genetictest3_FISH
Code List
FISH
CL Item
Yes (1)
CL Item
No (0)
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