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CDE Detailed Report
This report contains detailed information about the selected CDEs.
Note: If at least one CDE was selected from a copyright- or trademark-protected instrument/scale then all of the CDEs from that instrument/scale are included in this report.
Disease:
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Mutation Analysis
Item count: 36 (36 distinct CDEs)
CDE ID
CDE Name
Variable Name
Definition / Description
Question Text
Permissible Value
Description
Data Type
Instructions
References
Population
Classification (e.g., Core)
Version #
Version Date
Aliases for Variable Name
CRF Module / Guideline
© or TM
Sub-Domain
Domain
Previous Title
Size
Input Restrictions
Min Value
Max Value
Measurement Type
LOINC ID
SNOMED
caDSR ID
CDISC ID
C12798
Gene point mutation location type
GenePointMutLocTyp
Type of location of the point mutation
Point mutation location:
Exon (point mutation);Intron;Other;
Exon (point mutation);Intron;Other;
Alphanumeric
Choose one
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene point mutation location type
 
Single Pre-Defined Value Selected
       
C18262
Family history gene mutation indicator
FmlyHistGeneMutInd
Indicator for which side of the family the gene mutation comes from
Family History of the trait
Maternal Side;Paternal Side;Both Maternal and Paternal sides;Neither;Unknown;
Maternal Side;Paternal Side;Both Maternal and Paternal sides;Neither;Unknown;
Alphanumeric
Supplemental-Highly Recommended
No references available
Adult;Pediatric
Supplemental
3.0
7/21/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C12783
Mutational analysis results available indicator
MutAnlysisResltsAvailInd
Whether the mutational analysis results are available on this participant/ subject
Mutational analysis results available on this participant/subject:
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
If no answered, stop completing form.
No references available
Adult;Pediatric
Supplemental–Highly Recommended
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Mutational analysis results available indicator
 
Single Pre-Defined Value Selected
       
C12944
Mutational analysis performed indicator
MutAnlysisPerfInd
Whether the mutational analysis was performed on the participant/subject
Mutational analysis performed on the participant/subject
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
Supplemental-Highly Recommended
No references available
Adult;Pediatric
Supplemental–Highly Recommended
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Mutational analysis performed indicator
 
Single Pre-Defined Value Selected
       
C12784
Mutational analysis performed family member indicator
MutAnlysisPerfFamMemberInd
Whether the mutational analysis was performed on a family member
If no, was mutational analysis performed on a family member?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
Supplemental-Highly Recommended
No references available
Adult;Pediatric
Supplemental–Highly Recommended
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Mutational analysis performed on family member indicator
 
Single Pre-Defined Value Selected
       
C17896
Mutational analysis not performed reason
MutAnlysisNotPerfRsn
Why the mutational analysis was not performed
If no, provide explanation
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
255
Free-Form Entry
       
C18873
Gene mutation detected digenic result specify
GeneMutDetectedResltST
The free-text field related to 'Gene mutation detected result type'. Type of gene mutation detected
Digenic, specify
  
Alphanumeric
If Digenic is answered, record the second mutation.

Supplemental-Highly Recommended
No references available
Adult;Pediatric
Supplemental–Highly Recommended
3.0
7/25/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
C12785
Gene mutation detected result type
GeneMutDetectedResltTyp
Type of gene mutation detected
Mutation(s) detected:
Homozygous;Hemizygous;Heterozygous – two alleles identified;Heterozygous – only one allele identified;Digenic (mutations in more than one gene);No mutation detected;
Homozygous;Hemizygous;Heterozygous – two alleles identified;Heterozygous – only one allele identified;Digenic (mutations in more than one gene);No mutation detected;
Alphanumeric
If Digenic is answered, record the second mutation.

Supplemental-Highly Recommended
No references available
Adult;Pediatric
Supplemental–Highly Recommended
3.0
7/25/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene mutation detected result
 
Single Pre-Defined Value Selected
       
C12786
Allele identifier
AlleleID
Identifies which allele the associated data describe
Allele specific information
Allele #1;Allele #2;
Allele #1;Allele #2;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/25/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Allele identifier
 
Single Pre-Defined Value Selected
       
C12690
Gene name
GeneName
Name of the gene analyzed
Gene name
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene name
255
Free-Form Entry
       
C18874
Gene mutation other text
GeneMutationOTH
The free-text field related to 'Gene mutation category' specifying other text. Category of the mutation detected on the gene
Other, specify
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
C12787
Gene mutation category
GeneMutationCat
Category of the mutation detected on the gene
Mutation Class:
Deletion;Duplication;Missense;Nonsense;Splice;Pseudoexon;Potential;Subexonic Insertion/Deletion;Other, specify;
Deletion;Duplication;Missense;Nonsense;Splice;Pseudoexon;Potential;Subexonic Insertion/Deletion;Other, specify;
Alphanumeric
Supplemental-Highly Recommended
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene mutation category
 
Multiple Pre-Defined Values Selected
       
C12788
Gene exon copy number tested indicator
GeneExonCopyNumTestInd
Whether the copy number was directly tested for all exons
Was the copy number directly tested for all exons?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene exon copy number tested indicator
 
Single Pre-Defined Value Selected
       
C12789
Gene deletions duplications limits clearly defined indicator
GeneDelDupLimClearlyDefInd
Whether the limits of deletions and duplications are defined
Are the limits of deletions and duplications completely defined?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene deletions and duplications limits defined indicator
 
Single Pre-Defined Value Selected
       
C12790
Gene exon first deleted duplicated name
GeneExonFirstDelDupName
Identify first exon deleted or duplicated
First Deleted/Duplicated Exon:
  
Alphanumeric
Supplemental-Highly Recommended
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene exon first deleted or duplicated identifier
255
Free-Form Entry
       
C12791
Gene exon last deleted duplicated name
GeneExonLstDelDupName
Identify exon last deleted or duplicated
Last Deleted/Duplicated Exon:
  
Alphanumeric
Supplemental-Highly Recommended
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene exon last deleted or duplicated identifier
255
Free-Form Entry
       
C12792
Gene whole deletion indicator
GeneWholeDelInd
Whether the entire gene was deleted
Whole gene deletion?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene whole deletion indicator
 
Single Pre-Defined Value Selected
       
C12793
Gene exon predicted reading frame type
GeneExonPredReadFrameTyp
Type of predicted reading frame
Predicted reading frame:
In;Out;Unknown;
In;Out;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene exon predicted reading frame type
 
Single Pre-Defined Value Selected
       
C12794
Gene promoter deletion indicator
GenePromoterDeletionInd
Whether known gene promoters were deleted
Are known gene promoters deleted:
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene promoter deletion indicator
 
Single Pre-Defined Value Selected
       
C12795
Gene coding region sequenced indicator
GeneCodingRegionSeqInd
Whether the entire coding region for point mutations or pseudoexons was sequenced for the allele of the gene
Was the entire coding region sequenced:
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene coding region sequenced indicator
 
Single Pre-Defined Value Selected
       
C12796
Gene targeted mutational analysis indicator
GeneTargetedMutAnlysisInd
Whether mutational analysis was targeted at a particular mutation
Targeted mutational analysis only:
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene targeted mutational analysis indicator
 
Single Pre-Defined Value Selected
       
C12797
Gene targeted mutational analysis type
GeneTarMutAnlysisTyp
Type of targeted mutational analysis performed for the gene
If Yes, type of analysis:
Hot-spot;Known familial mutation;Other, specify;
Hot-spot;Known familial mutation;Other, specify;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene targeted mutational analysis type
 
Single Pre-Defined Value Selected
       
C18875
Gene targeted mutational analysis other text
GeneTarMutAnlysisOTH
The free-text field related to 'Gene targeted mutational analysis type' specifying other text. Type of targeted mutational analysis performed for the gene
Other, specify
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
C17890
Allele number one point mutation subclass information
AlleleNumOnePoMutLocSubInfTyp
Type of point mutation subclass information, first allele number one
Point mutation subclass information:
Insertion Deletion;Nonsense Type;
Insertion Deletion;Nonsense Type;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C17889
Gene point mutation location exon text
GenePointMutLocExonTxt
Text about point mutation at the exon
Exon (Point Mutation):
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
255
Free-Form Entry
       
C17894
Gene point mutation location intron text
GenePointMutLocIntronTxt
Text about point mutation at the intron
Intron:
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
255
Free-Form Entry
       
07-22-2019
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