CDE Detailed Report

Disease: content
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome

Displaying 1 - 21 of 21
CDE ID CDE Name Variable Name Definition Short Description 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 / Guidance) Subdomain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C19011 Gene mutation specify text GeneMutST The free-text field related to 'Gene mutation type'. The type of genetic variant or mutation shown 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 3.00 2013-07-16 14:01:43.01 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C10846 Gene variant or mutation indicator GeneVarOrMutInd Indicator whether a variant or mutation was found in the common gene screened in the participant/subject for the disease or disorder Indicator whether a variant or 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 3.10 2022-07-27 16:52:28.0 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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 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 3.00 2013-07-16 14:01:43.01 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C12231 Laboratory name LabName Name of laboratory where assessment was performed Name of laboratory where assessment was performed Performed by laboratory Alphanumeric Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C19014 Gene detection method type other text GeneDetectMethdTypOTH The free-text field related to 'Gene detection method type' specifying other text. The method used to detect the gene mutation or variant The free-text field related to 'Gene detection method type' specifying other text. The method used to detect the gene mutation or varian Other, specify Alphanumeric

Specify the detection method used. Choose all that apply.

No references available Adult;Pediatric Supplemental 3.10 2022-07-27 17:00:11.0 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C15520 Genetic testing performed indicator GenTestPerfInd Indicator of whether the participant had genetic testing performed Indicator of whether the participant had genetic testing performed 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 3.10 2024-02-29 15:54:00.0 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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 The indicator relating to whether any of the subject's family members have had genetic testing Was genetic testing performed in family members? No;Yes;Unknown No;Yes;Unknown Alphanumeric Adult;Pediatric Supplemental 1.00 2017-06-05 13:31:53.0 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C15522 Headache gene present indicator HdacheGenePrsntInd Indicator of whether a gene associated with headache was present after genetic testing 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 3.00 2013-07-16 14:01:43.01 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 Text describing the reason for genetic testing for the subject's family member If yes, specify reason for tests performed Alphanumeric Adult;Pediatric Supplemental 1.00 2017-06-05 13:35:30.0 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C15539 Gene variant or mutation type GeneVarOrMutTyp The type of genetic variant or mutation shown 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 3.10 2022-07-27 16:55:03.0 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C56033 Genetic test result source type GeneTestResltSourceTyp Type of source of the participant's genetic test results Type of source of the participant'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

Adult;Pediatric Supplemental 2.00 2024-03-18 15:21:17.0 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C15545 Gene nucleotide change name GeneNucleotChngName In cases of an genetic variant or mutation, specify the nucleotide name In cases of an genetic variant or mutation, specify the nucleotide change Nucleotide change Alphanumeric

If genetic variant/mutation was identified, specify nucleotide change

No references available Adult;Pediatric Supplemental 3.00 2013-07-16 14:01:43.01 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C56035 Genetic test result source type other text GeneTestResltSourceTypOth The free-text field related to 'Genetic test result source type', specifying other text. Type of source of the participant's genetic test results The free-text field related to 'Genetic test result source type', specifying other text. Type of source of the participant's genetic test results Other, specify Alphanumeric Adult;Pediatric Supplemental 2.10 2024-02-29 15:54:02.0 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C15549 Gene amino acid change name GeneAminacidChngName In cases of an genetic variant or mutation, specify the amino acid change 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 3.00 2013-07-16 14:01:43.01 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 The type of genotyping performed in the subject's genetic testin 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 Adult;Pediatric Supplemental 1.00 2017-06-05 13:42:12.0 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C15553 Gene unclassified variant shown indicator GeneUnclsfdVarintShwnInd Indicator of whether an unclassified variant shown 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 3.00 2013-07-16 14:01:43.01 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C56038 Genetic test performed other text GeneTestPerfrmedOthrTxt The free-text field specifying the other genetic test that was performed The free-text field specifying the other genetic test that was performe Yes, specify test Alphanumeric

If a gene test other than those listed was performed, choose Yes and specify the gene test performed.

Adult;Pediatric Supplemental 1.10 2022-07-27 16:49:12.0 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 The method used to detect the gene mutation or varian 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 3.00 2013-07-16 14:01:43.01 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C10844 Gene type GeneTyp The type of gene screened in the participant/subject for the disease or disorder The common genes 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 3.00 2013-07-22 16:57:17.79 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C18027 Comment text CmmntTxt Provide any additional information that pertains to the question Provide any additional information that pertains to the question Comments Alphanumeric

Provide any additional comments pertinent to the gene test performed

Adult;Pediatric Supplemental 3.00 2013-07-16 14:01:43.01 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C10845 Gene screened indicator GeneScrndInd Indicator whether the participant/subject was screened for the specific gene mutation (e.g., Superoxide dismutase 1, Fused in sarcoma, TAR DNA binding protein) commonly seen in the disease or disorder Indicator whether the participant/subject was screened for the specific gene mutation (e.g., 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 3.10 2022-07-27 16:51:04.0 DNA Elements Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

CSV