CDE Detailed Report
Disease: Myotonic Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Mutation Analysis
Displaying 1 - 20 of 20
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Mutation Analysis
Displaying 1 - 20 of 20
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C12804 | Gene cDNA variant mutation name | GeneCDNAVarMutName | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation | cDNA: | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:55:02.0 | 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 assesse | 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 variant mutation name | GeneMRNAVarMutName | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation | mRNA: | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:55:03.0 | 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 variant mutation name | GeneProteinVarMutName | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation | Protein: | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:55:04.0 | 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 | Variant mutational analysis performed indicator | VarMutAnlysisPerfInd | Indicator of whether the variant or mutational analysis was performed on the participant | Indicator of whether the variant or mutational analysis was performed on the participant | Mutational analysis performed on the participant/subject: | Yes;No | Yes;No | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:37.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| 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 | Variant mutational analysis not performed reason | VarMutAnlysisNotPerfRsn | Reason for why the mutational analysis was not performed | Reason for why the mutational analysis was not performed | If no, provide explanation: | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:38.0 | 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 | Variant mutational analysis results available indicator | VarMutAnlysisResltsAvailInd | Indicator of whether the variant or mutational analysis results are available on this participant | Indicator of whether the variant or mutational analysis results are available on this participant | Mutational analysis results available on this patricipant/subject: | Yes;No | Yes;No | Alphanumeric |
If no, stop completing form |
No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:36.0 | 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 | Variant mutational analysis performed family member indicator | VarMutAnlysisPerfFamMembrInd | Indicator of whether the mutational analysis was performed on a family member | Indicator of 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 | 3.20 | 2024-02-29 15:54:37.0 | 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 variant mutation mRNA analysis performed indicator | GeneVarMutMRNAAnlysisPerfInd | Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed | Indicator of 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 | 3.20 | 2024-02-29 15:55:01.0 | 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 variant mutation implications confirmed mRNA analysis indicator | GeneVrrMutImpConMRNAAnlyssInd | Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis | Indicator of whether the messenger ribonucleic acid (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 | 3.20 | 2024-02-29 15:55:02.0 | 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 |
