CDE Detailed Report

Disease: content
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome

Displaying 1 - 20 of 20
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
C19754 Gene mutation myotonic dystrophy repeat interruption assessment indicator GeneMutMyoDysRepInterrptAssInd Indicator of whether repeat interruptions were found Indicator of whether repeat interruptions were found Were repeat interruptions found No;Yes No;Yes Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12804 Gene cDNA mutation name GeneCDNAMutName The Human Genome Organisation (HUGO) mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) mutation The Human Genome Organisation (HUGO) mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) mutation cDNA: Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C19755 Gene mutation myotonic dystrophy repeat interruption assessment text GeneMutMyoDysRepInterrptAssTxt The type of repeat interruptions assessed. The type of repeat interruptions assessed. If so, which type of interruptions? Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C12805 Gene mRNA mutation name GeneMRNAMutName The Human Genome Organisation (HUGO) mutation nomenclature of the messenger ribonucleic acid (mRNA) mutation The Human Genome Organisation (HUGO) mutation nomenclature of the messenger ribonucleic acid (mRNA) mutation mRNA: Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C19756 Gene mutation myotonic dystrophy detect method type GeneMutMyoDysDetMethTyp The type of methods used to detect detect repeat interruptions The type of methods used to detect detect repeat interruptions Methods used: Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C12806 Gene protein mutation name GeneProteinMutName The Human Genome Organisation (HUGO) mutation nomenclature of the protein mutation The Human Genome Organisation (HUGO) mutation nomenclature of the protein mutation Protein: Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C19757 Gene mutation myotonic dystrophy other variant indicator GeneMutMyoDysOthVarInd The indicator related to whether there were any additional variants/mutations in the specified genes The indicator related to whether there were any additional variants/mutations in the specified genes Are there additional variants/mutations in DMPK gene or ZNF9 gene No;Yes No;Yes Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12944 Mutational analysis performed indicator MutAnlysisPerfInd Whether the mutational analysis was performed on the participant/subject Whether the mutational analysis was performed on the participant/subject Mutational analysis performed on the participant/subject: Yes;No Yes;No Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19758 Target RNA alternative splicing indicator TrgtRNAAltSplcngInd The indicator of whether there were target RNA species for alternative splicing investigated The indicator of whether there were target RNA species for alternative splicing investigated Are target RNA species for alternative splicing investigated: No;Yes No;Yes Alphanumeric No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17896 Mutational analysis not performed reason MutAnlysisNotPerfRsn Why the mutational analysis was not performed Why the mutational analysis was not performed If no, provide explanation: Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C19759 Target RNA alternative splicing text TrgtRNAAltSplcngTxt Text identifying the type of target RNA species were investigated and in which tissue Text identifying the type of target RNA species were investigated and in which tissue Which target RNA species were investigated in which tissue? Alphanumeric No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C19749 Mutational analysis tissue specimen type MutAnlysisTissSpecTyp Type of tissue used for analysis Type of tissue used for analysis Tissue used for analysis Full blood;Muscle tissue;Buccal smear;Urine;Others Full blood;Muscle tissue;Buccal smear;Urine;Others Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19750 Gene mutation myotonic dystrophy detected type GeneMutMyoDystDetTyp Type mutations detected Type mutations detected Mutation(s) detected: Repeat allele;Homozygous Digenic (mutations in more than one gene);No mutations detected Repeat allele;Homozygous Digenic (mutations in more than one gene);No mutations detected Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 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 Whether the mutational analysis results are available on this participant/ subject Mutational analysis results available on this patricipant/subject: Yes;No Yes;No Alphanumeric

If no, stop completing form

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19751 Gene mutation myotonic dystrophy repeat length assessment indicator GeneMutMyoDysRepLngthAssessInd Indicator of whether the mutated repeated allele's length was analyzed Indicator of whether the mutated repeated allele's length was analyzed Repeat allele length analyzed? No;Yes No;Yes Alphanumeric

If yes,

No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12784 Mutational analysis performed family member indicator MutAnlysisPerfFamMemberInd Whether the mutational analysis was performed on a family member Whether the mutational analysis was performed on a family member If no, was the mutational analysis performed on a family member? Yes;No Yes;No Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19752 Gene mutation myotonic dystrophy repeat assessment count GeneMutMyoDysRepAssessCt Count of copy numbers of the mutated allele length Count of copy numbers of the mutated allele length Result copy numbers: (number) Numeric Values No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C12802 Gene mutation mRNA analysis performed indicator GeneMRNAAnlysisPerfInd Whether messenger ribonucleic acid (mRNA) analysis was performed Whether messenger ribonucleic acid (mRNA) analysis was performed mRNA analysis performed: Yes;No;Unknown Yes;No;Unknown Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19753 Gene mutation myotonic dystrophy repeat assessment length value GeneMutMyoDysRepAssessLngthVal Length of the mutated allele Length of the mutated allele Repeat length: Numeric Values

in kb

No references available Adult;Pediatric Supplemental 1.00 2015-02-07 00:00:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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kilobases
C12803 Gene mutation implications confirmed mRNA analysis indicator GeneMutImpConMRNAAnlysisInd Whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis Whether the mRNA analysis confirmed implications of genetic analysis If Yes, were implications confirmed: Yes;No Yes;No Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

CSV