CDE Detailed Report
Disease: content
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome
Displaying 1 - 39 of 39
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome
Displaying 1 - 39 of 39
| 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 / Guideline) | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C12787 | Gene variant or mutation category | GeneVarOrMutationCat | Category of the variant or mutation detected on the gene | Category of the variant or mutation detected on the gene | Mutation Class: | Deletion;Duplication;Missense;Nonsense;Potential;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify | Deletion;Duplication;Missense;Nonsense;Potential;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify | Alphanumeric |
Answered for Allele #1 and Allele #2. Choose all that apply. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 10:35:02.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C18875 | Gene targeted variant or mutational analysis other text | GeneTarVarOrMutAnlysisOTH | The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene | The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene | Other, specify | Alphanumeric |
Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected and if Yes is answered for "Targeted mutational analysis only?" |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 10:56:26.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12798 | Gene missense nonsense variant or point mutation location type | GeneMsNsVrOrPointMutLocTyp | Type of location of the missense/nonsense variant or point mutation | Type of location of the missense/nonsense variant or point mutation | Point mutation location: | Exon (point mutation);Intron;Other | Exon (point mutation);Intron;Other | Alphanumeric |
Choose one |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 10:58:27.0 | 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 | Whether the variant or mutational analysis was performed on the participant/subject | Whether the variant or mutational analysis was performed on the participant/subject | Mutational analysis performed on the participant/subject | Yes;No | Yes;No | Alphanumeric |
Choose one |
No references available | Adult;Pediatric | Core | 3.10 | 2022-07-27 09:58:33.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12788 | Gene exon copy number tested indicator | GeneExonCopyNumTestInd | Whether the copy number was directly tested for all exons | Whether the copy number was directly tested for all exons | Was the copy number directly tested for all exons? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one. |
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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| C12800 | Gene missense nonsense variant or point mutation insertion deletion type | GeneMsNsVrOrPntMutInsertDelTyp | The insertion deletion type of the missense/nonsense variant or point mutation | The insertion deletion type of the missense/nonsense variant or point mutation | Insertion Deletion: | Deletion;Insertion;Insertion/Deletion | Deletion;Insertion;Insertion/Deletion | Alphanumeric |
Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 11:14:45.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17889 | Gene missense nonsense variant or point mutation location exon text | GeneMsNsVrOrPointMutLocExonTxt | Text about missense/nonsense variant or point mutation at the exon | Text about missense/nonsense variant or point mutation at the exon | Exon (Point Mutation): | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 11:01:20.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12789 | Gene deletions duplications limits clearly defined indicator | GeneDelDupLimClearlyDefInd | Whether the limits of deletions and duplications are defined | Whether the limits of deletions and duplications are defined | Are the limits of deletions and duplications completely defined? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one. |
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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| C12801 | Gene point mutation nonsense variant codon type | GenePointMutNonsenseVrCodonTyp | Type of nonsense variant or point mutation | Type of nonsense variant or point mutation | Nonsense Type: | UAA;UAG;UGA;Not applicable | UAA;UAG;UGA;Not applicable | Alphanumeric |
Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 11:19:25.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17890 | Allele number one missense nonsense variant or point mutation subclass information type | AlleleNm1MNsVrOrPoMtLcSbIfTyp | Type of missense/nonsense variant or point mutation subclass information, first allele number one | Type of missense/nonsense variant or point mutation subclass information, first allele number one | Point mutation subclass information: | Insertion Deletion;Nonsense Type | Insertion Deletion;Nonsense Type | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 11:11:15.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12790 | Gene exon first deleted duplicated name | GeneExonFirstDelDupName | Identify first exon deleted or duplicated | Identify first exon deleted or duplicated | First Deleted/Duplicated Exon: | Alphanumeric |
Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected and the limits of deletions and duplications are completely defined. |
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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| C12802 | Gene variant or mutation mRNA analysis performed indicator | GeneVarOrMutMRNAAnlysisPerfInd | 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 |
Answered for Allele #1 and Allele #2 (if applicable). Choose one. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 11:20:58.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17891 | Gene additional variants unknown significance text | GeneAddVarUnkSignfcnceTxt | Text about additional variants in other genes of unknown significance | Text about additional variants in other genes of unknown significance | If yes, indicate: | 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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| C12791 | Gene exon last deleted duplicated name | GeneExonLstDelDupName | Identify exon last deleted or duplicated | Identify exon last deleted or duplicated | Last Deleted/Duplicated Exon: | Alphanumeric |
Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected and the limits of deletions and duplications are completely defined. |
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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| C12803 | Gene variant or mutation implications confirmed mRNA analysis indicator | GeneVrOrMutImpConMRNAAnlyssInd | 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 |
Only answered if Yes was answered for "mRNA analysis performed?" for the allele. Choose one. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 16:05:11.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12690 | Gene name | GeneName | Name of the gene analyzed | Name of the gene analyzed | Gene name | Alphanumeric |
Answer for Allele #1 and Allele #2 (if applicable) |
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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| C17893 | Gene missense nonsense variant or point mutation location other text | GeneMsNsVrOrPntMutLocOtherTxt | Text about missense/nonsense variant or point mutation at locations other than the exon and intron | Text about missense/nonsense variant or point mutation at locations other than the exon and intron | Other: | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 11:07:09.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12792 | Gene whole deletion indicator | GeneWholeDelInd | Whether the entire gene was deleted | Whether the entire gene was deleted | Whole gene deletion? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one. |
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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| C12804 | Gene cDNA variant or mutation name | GeneCDNAVarOrMutName | The Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation | The Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation | cDNA: | Alphanumeric |
Only answered if Yes was answered for "mRNA analysis performed?" for the allele. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 16:07:51.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12782 | Gene additional variants unknown significance indicator | GeneAddVarUnknownSignfcnceInd | Whether there are additional variants in other genes of unknown significance | Whether there are additional variants in other genes of unknown significance | Are there additional variants in other genes of unknown significance? | Yes;No | Yes;No | Alphanumeric |
Choose one |
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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| C17894 | Gene missense nonsense variant or point mutation location intron text | GeneMsNsVrOrPntMutLocIntronTxt | Text about missense/nonsense variant or point mutation at the intron | Text about missense/nonsense variant or point mutation at the intron | Intron: | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 11:04:36.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12793 | Gene exon predicted reading frame type | GeneExonPredReadFrameTyp | Type of predicted reading frame | Type of predicted reading frame | Predicted reading frame: | IN;Out;Unknown | IN;Out;Unknown | Alphanumeric |
Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one. |
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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| C12805 | Gene mRNA variant or mutation name | GeneMRNAVarOrMutName | The Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation | The Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation | mRNA: | Alphanumeric |
Only answered if Yes was answered for "mRNA analysis performed?" for the allele. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 16:12:46.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12783 | Variant mutational analysis results available indicator | VarMutAnlysisResltsAvailInd | Whether the variant or mutational analysis results are available on this participant/ subject | Whether the variant or mutational analysis results are available on this participant/ subject | Mutational analysis results available on this participant/subject: | Yes;No | Yes;No | Alphanumeric |
If no answered, stop completing form. |
No references available | Adult;Pediatric | Core | 3.10 | 2022-07-27 09:56:07.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17895 | Genes sequenced with no mutations text | GeneSeqNoMutationsTxt | Text about additional genes sequenced with no mutations detected | Text about additional genes sequenced with no mutations detected | If yes, indicate: | 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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| C12794 | Gene promoter deletion indicator | GenePromoterDeletionInd | Whether known gene promoters were deleted | Whether known gene promoters were deleted | Are known gene promoters deleted: | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one. |
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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| C12806 | Gene protein variant or mutation name | GeneProteinVarOrMutName | The Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation | The Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation | Protein: | Alphanumeric |
Only answered if Yes was answered for "mRNA analysis performed?" for the allele. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 16:16:02.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12784 | Variant mutational analysis performed family member indicator | VarMutAnlysisPerfFamMembrInd | Whether the mutational analysis was performed on a family member | Whether the mutational analysis was performed on a family member | If no, was mutational analysis performed on a family member? | Yes;No | Yes;No | Alphanumeric |
Answer if mutation analysis was not performed on participant/subject. Choose one. If No, provide explanation. |
No references available | Adult;Pediatric | Core | 3.10 | 2022-07-27 10:02:53.0 | 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 | Why the mutational analysis was not performed | Why the mutational analysis was not performed | If no, provide explanation | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 10:05:39.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12795 | Gene coding region sequenced indicator | GeneCodingRegionSeqInd | For missense/nonsense variant or point mutations or pseudoexons, whether the entire coding region was sequenced for the allele of the gene | For missense/nonsense variant or point mutations or pseudoexons, whether the entire coding region was sequenced for the allele of the gene | Was the entire coding region sequenced: | Yes;No | Yes;No | Alphanumeric |
Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 10:49:48.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12807 | Gene second disease allele indicator | GeneSecondDiseaseAlleleInd | Whether a second disease allele was identified | Whether a second disease allele was identified | Was a second disease allele identified? | Yes;No | Yes;No | Alphanumeric |
If no answered, 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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| C12785 | Gene variant mutation detected result type | GeneVarMutDetectedResltTyp | Type of gene variant or mutation detected | Type of gene variant or mutation detected | Mutation(s) detected: | Homozygous;Hemizygous;Heterozygous – two alleles identified;Heterozygous – only one allele identified;Digenic (mutations in more than one gene);No mutation detected | Homozygous;Hemizygous;Heterozygous – two alleles identified;Heterozygous – only one allele identified;Digenic (mutations in more than one gene);No mutation detected | Alphanumeric |
If Digenic is answered, record the second mutation. |
No references available | Adult;Pediatric | Core | 3.10 | 2022-07-27 10:08:55.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C18873 | Gene mutation detected digenic result specify | GeneMutDetectedResltST | The free-text field related to 'Gene mutation detected result type'. Type of gene mutation detected | The free-text field related to 'Gene mutation detected result type'. Type of gene mutation detected | Digenic, specify | Alphanumeric |
If Digenic is answered, record the second mutation. |
No references available | Adult;Pediatric | Core | 3.00 | 2013-07-25 08:54:08.2 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12796 | Gene targeted variant or mutational analysis indicator | GeneTargetedVarOrMutAnlysisInd | Whether variant or mutational analysis was targeted at a particular variant or mutation | Whether variant or mutational analysis was targeted at a particular variant or mutation | Targeted mutational analysis only: | Yes;No | Yes;No | Alphanumeric |
Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 10:52:13.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12808 | Gene sequenced with no variant or mutation indicator | GeneSeqNoVarOrMutationsInd | Whether there are additional genes sequenced with no variants or mutations detected | Whether there are additional genes sequenced with no variants or mutations detected | Are there additional genes sequenced with no mutations detected? | Yes;No | Yes;No | Alphanumeric |
Choose one |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 10:18:50.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12786 | Allele identifier | AlleleID | Identifies which allele the associated data describe | Identifies which allele the associated data describe | Allele specific information | Allele #1;Allele #2 | Allele #1;Allele #2 | Alphanumeric |
Choose one |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C18874 | Gene variant or mutation category other text | GeneVarOrMutationCatOTH | The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene | The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene | Other, specify | Alphanumeric |
Answered for Allele #1 and Allele #2. Choose all that apply. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 10:37:36.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12797 | Gene targeted variant or mutational analysis type | GeneTarVarOrMutAnlysisTyp | Type of targeted variant or mutational analysis performed for the gene | Type of targeted variant or mutational analysis performed for the gene | If Yes, type of analysis: | Hot-spot;Known familial mutation;Other, specify | Hot-spot;Known familial mutation;Other, specify | Alphanumeric |
Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected and if Yes is answered for "Targeted mutational analysis only?" |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 10:54:05.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12818 | Gene second allele identical indicator | GeneSecondAlleleIdenticalInd | Whether allele #2 is identical to allele #1 | Whether allele #2 is identical to allele #1 | Is allele # 2 identical to allele # 1 (Homozygous only): | Yes;No | Yes;No | Alphanumeric |
Answer if homozygous only; if yes answered, 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 |
