CDE Detailed Report
Disease: content
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome
Displaying 1 - 21 of 21
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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
