CDE Detailed Report

Disease: Huntington's Disease
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: DNA Elements - Participant

Displaying 1 - 7 of 7
CDE ID CDE Name Variable Name Definition Short Description Additional Notes (Question Text) Permissible Values Description Data Type Disease Specific Instructions Disease Specific Reference Population Classification (e.g., Core) Version Number Version Date CRF Name (CRF Module / Guideline) Sub Domain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C14936 Cytosine adenine guanine repeats larger allele number CAGRepeatsLargerAlleleNum The number of cytosine adenine guanine (CAG) repeats on the larger allele. The number of Cytosine Adenine Guanine (CAG) repeats on the larger allele If Yes, what are the number of CAG repeats on the larger allele Numeric Values

To be completed by the laboratory generating CAG repeat information on a sample

No references available Adult Supplemental-Highly Recommended 3.00 2013-07-14 19:48:50.273 DNA Elements - Participant/Subject Information Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C14937 Cytosine adenine guanine repeats smaller allele number CAGRepeatsSmallerAlleleNum The number of cytosine adenine guanine (CAG) repeats on the smaller allele. The number of Cytosine Adenine Guanine (CAG) repeats on the smaller allele Number of CAG repeats on the smaller allele Numeric Values

To be completed by the laboratory generating CAG repeat information on a sample

No references available Adult Supplemental-Highly Recommended 3.00 2013-07-14 19:48:50.273 DNA Elements - Participant/Subject Information Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C14938 Cytosine adenine guanine repeat test indicator CAGRepeatTestInd Indicate whether a genetic test has been performed to determine the number of cytosine adenine guanine (CAG) repeats Indicate whether a genetic test has been performed to determine the number of cytosine adenine guanine (CAG) repeats Have you had a genetic test performed to determine your number of CAG repeats? Yes;No Yes;No Alphanumeric

To be completed by the study investigator or by participant/subject as required by the relevant CRF

No references available Adult Supplemental-Highly Recommended 3.00 2013-07-14 19:48:50.273 DNA Elements - Participant/Subject Information Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C14939 Huntingtons disease risk grade HDRiskGrade Participant's/subject's risk for HD based on number of CAG repeats Participant's/subject's risk for Huntington disease (HD) based on number of Cytosine Adenine Guanine (CAG) repeats If yes, what was your risk of Huntington disease? Intermediate;Uninformative/Reduced penetrance;100%;None;Unknown Intermediate (27-35);Uninformative/Reduced penetrance (36-39);100% (40+);None;Unknown Alphanumeric

Only answered if 'Yes' is answered for 'Have you had a genetic test performed to determine your number of CAG repeats?" To be complete by participant/subject.

No references available Adult Supplemental-Highly Recommended 3.00 2013-07-14 19:48:50.273 DNA Elements - Participant/Subject Information Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C14940 Cytosine adenine guanine repeat known indicator CAGRepeatKnownInd Whether the participant's/subject's Cytosine Adenine Guanine (CAG) repeat lengths are known Whether the participant/subject's Cytosine Adenine Guanine (CAG) repeat lengths are known Do you know your CAG repeat lengths? Yes;No Yes;No Alphanumeric

To be completed by participant/subject.

No references available Adult Supplemental-Highly Recommended 3.00 2013-07-14 19:48:50.273 DNA Elements - Participant/Subject Information Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17747 Cytosine Adenine Guanine repeat results provider type CAGRepeatResltProvideTyp the type of provider who repeated the Cytosine Adenine Guanine (CAG) results. The type of provider who repeated the Cytosine Adenine Guanine (CAG) results. Who provided you with these CAG repeat results? Neurologist;Other Type of Physician;Genetic counselor;Other, specify;Unknown Neurologist;Other Type of Physician;Genetic counselor;Other, specify;Unknown Alphanumeric No references available Adult Supplemental-Highly Recommended 3.00 2013-08-30 17:06:52.8 DNA Elements - Participant/Subject Information Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19062 Cytosine Adenine Guanine repeat results provider other text CAGRepeatResltProvideOTH The free-text field related to 'Cytosine Adenine Guanine repeat results provider type' specifying other text. The type of provider who repeated the Cytosine Adenine Guanine (CAG) results. The free-text field related to 'Cytosine Adenine Guanine repeat results provider type' specifying other text. The type of provider who repeated the Cytosine Adenine Guanine (CAG) results. Other, specify Alphanumeric No references available Adult Supplemental-Highly Recommended 3.00 2013-08-30 17:06:52.8 DNA Elements - Participant/Subject Information Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

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