CDE Detailed Report
Disease: Myotonic Muscular Dystrophy
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Mutation Analysis
Displaying 1 - 20 of 20
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Mutation Analysis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
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| 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 |
Free-Form Entry |
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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 |
Free-Form Entry |
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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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
Free-Form Entry |
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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 |
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| 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 |
Free-Form Entry |
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 |
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| 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 |
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| 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 |
Free-Form Entry |
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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 |
Free-Form Entry |
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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 |
Free-Form Entry |
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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 |
Free-Form Entry |
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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 |
Free-Form Entry |
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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 |
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| 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 |
