of0
Export
 
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: Headache
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: DNA Elements
Item count: 21 (21 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
C15520
Genetic testing performed indicator
GenTestPerfInd
Indicator whether the subject participated in genetic testing.
Did the participant subject have genetic testing performed?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
If No, do not answer any other questions on this form. If Yes, move to next question.
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Genetic testing performed indicator
 
Single Pre-Defined Value Selected
       
C15522
Headache gene present indicator
HdacheGenePrsntInd
Indicator of whether a gene associated with headache was present after genetic testing
If Yes did genetic testing determine the presence of a gene associated with headache?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
Complete the table if Yes or No is answered.
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Headache gene present indicator
 
Single Pre-Defined Value Selected
       
C56030
Genetic testing performed family member indicator
GeneTestPerfFmlyMembrInd
The indicator relating to whether any of the subject's family members have had genetic testing
Was genetic testing performed in family members?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
6/5/2017
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C56032
Genetic testing performed family member reason txt
GeneTestPerfFmlyMembrReasnTxt
Text describing the reason for genetic testing for the subject's family members.
If yes, specify reason for tests performed
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
6/5/2017
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
255
Free-Form Entry
       
C56033
Genetic test result source type
GeneTestResltSourceTyp
The source of the subject's genetic test results.
Indicate the source(s) of the genetic test results
Neurologist;Physician;Genetic counselor;Medical records;Other, specify;
Neurologist;Physician;Genetic counselor;Medical records;Other, specify;
Alphanumeric
Choose the source(s) of the genetic test(s) results. Choose all that apply
No references available
Adult;Pediatric
Supplemental
1.0
6/5/2017
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Multiple Pre-Defined Values Selected
       
C56035
Genetic test result source other text
GeneTestResltSourceOthrTxt
The free-text field describing another source of the subject's test results.
Other, specify
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
6/5/2017
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
255
Free-Form Entry
       
C56036
Genetic testing genotype performed type
GeneTestGenoPerfTyp
The type of genotyping performed in the subject's genetic testing.
Specify the type of genetic testing and name of laboratory that performed the genetic testing
Gene-specific test;Genome-wide association study (GWAS) array;Whole exome sequencing;Whole genome sequencing;
Gene-specific test;Genome-wide association study (GWAS) array;Whole exome sequencing;Whole genome sequencing;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
6/5/2017
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C12231
Laboratory name
LabName
Name of laboratory where assessment was performed
Performed by laboratory
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Laboratory name
255
Free-Form Entry
       
C10844
Gene type
GeneTyp
The type of gene screened in the participant/subject for the disease or disorder
Gene (Test)
CACNA1A (FHM1);ATP1A2 (FHM2);SCN1A (FHM3);NOTCH3 (CADASIL);TREX1 (RVCL-S);Other;
CACNA1A (FHM1);ATP1A2 (FHM2);SCN1A (FHM3);NOTCH3 (CADASIL);TREX1 (RVCL-S);Other;
Alphanumeric
No additional instructions
No references available
Adult;Pediatric
Supplemental
3.0
7/22/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene type
 
Single Pre-Defined Value Selected
       
C10845
Gene screened indicator
GeneScrndInd
Indicator whether the participant/subject was screened for the specific gene mutation (Superoxide dismutase 1, Fused in sarcoma, TAR DNA binding protein) commonly seen in the disease or disorder
Test performed?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
If the gene test listed was performed, choose Yes.
No references available
Adult;Pediatric
Supplemental
3.0
7/22/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene screened indicator
 
Single Pre-Defined Value Selected
       
C56038
Genetic test performed other text
GeneTestPerfrmedOthrTxt
The free-text field specifying the other genetic test that was performed.
Yes, specify test
  
Alphanumeric
If a gene test other than those listed was performed, choose Yes and specify the gene test performed.
No references available
Adult;Pediatric
Supplemental
1.0
6/5/2017
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
255
Free-Form Entry
       
C10846
Gene mutation indicator
GeneMutInd
Indicator whether a mutation was found in the common gene screened in the participant/subject for the disease or disorder
Mutation shown?
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
If there was a mutation shown, choose Yes and specify the nucleotide change and amino acid change.
No references available
Adult;Pediatric
Supplemental
3.0
7/22/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene mutation indicator
 
Single Pre-Defined Value Selected
       
C19011
Gene mutation specify text
GeneMutST
The free-text field related to 'Gene mutation type'. The type of genetic variant or mutation shown
Yes specify
  
Alphanumeric
No additional instructions
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
C15539
Gene mutation type
GeneMutTyp
The type of genetic variant or mutation shown
Yes specify
Nucleotide change, specify;Amino acid change, specify;
Nucleotide change, specify;Amino acid change, specify;
Alphanumeric
No additional instructions
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene mutation type
 
Single Pre-Defined Value Selected
       
C15545
Gene nucleotide change name
GeneNucleotChngName
In cases of an genetic variant or mutation, specify the nucleotide name
Nucleotide change
  
Alphanumeric
If genetic variant/mutation was identified, specify nucleotide change
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene nucleotide change type
255
Free-Form Entry
       
C15549
Gene amino acid change name
GeneAminacidChngName
In cases of an genetic variant or mutation, specify the amino acid change
Amino acid change
  
Alphanumeric
If genetic variant/mutation was identified, specify amino acid change
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene amino acid change type
255
Free-Form Entry
       
C15553
Gene unclassified variant shown indicator
GeneUnclsfdVarintShwnInd
Indicator of whether an unclassified variant shown
Unclassified variant shown?
Yes, specify;No;Unknown;
Yes;No;Unknown;
Alphanumeric
If there was an unclassified variant shown, choose Yes and specify.
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene unclassified variant shown indicator
 
Single Pre-Defined Value Selected
       
C19013
Gene unclassified variant shown specify text
GeneUnclsfdVarintShwnST
The free-text field related to 'Gene unclassified variant shown indicator'. Indicator of whether an unclassified variant shown
Yes, specify
  
Alphanumeric
If there was an unclassified variant shown, choose Yes and specify.
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
C15557
Gene detection method type
GeneDetectMethdTyp
The method used to detect the gene mutation or variant.
Detection method specify
Direct sequencing (PCR);DNA microarray;Melting curve analysis;Restriction Enzyme Analysis;Sequenom method;Single-strand conformation polymorphism (SSCP);TaqMan assay;Other, specify;
Direct sequencing (PCR);DNA microarray;Melting curve analysis;Restriction Enzyme Analysis;Sequenom method;Single-strand conformation polymorphism (SSCP);TaqMan assay;Other, specify;
Alphanumeric
Specify the detection method used. Choose all that apply.
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene detection method type
 
Multiple Pre-Defined Values Selected
       
C19014
Gene detection method other text
GeneDetectMethdOTH
The free-text field related to 'Gene detection method type' specifying other text. The method used to detect the gene mutation or variant.
Other, specify
  
Alphanumeric
Specify the detection method used. Choose all that apply.
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
C18027
Comment text
CmmntTxt
Provide any additional information that pertains to the question.
Comments
  
Alphanumeric
Provide any additional comments pertinent to the gene test performed
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
DNA Elements
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
06-16-2019
Page 1 of 1