CDE Detailed Report

Disease: Congenital Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue

Displaying 51 - 100 of 166
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
C19989 Immunohistochemistry C5b9 presence status IHCC5b9PresStat The status of the presence of C5b9 in immunohistochemistry The status of the presence of C5b9 in immunohistochemistry C5b-9 Absent;Present Absent;Present Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12229 Tissue specimen size measurement TissSpecmnSizeMeasr Measurement of the size of the tissue specimen collected Measurement of the size of the tissue specimen collected Size of tissue collected Numeric Values

This information may not be available for autopsy tissue.

No references available Adult;Pediatric Core 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

centimeter
C19936 Biopsy and autopsy lobulated fibers status BpApLobulFibStat Lobulated fibers status in biopsy/autopsy Lobulated fibers status in biopsy/autopsy Lobulated fiber Absent;Sparse;Moderate Absent;Sparse;Moderate Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12520 Specimen type 1 fiber muscle biopsy percent result number SpecTyp1FibMuscBpPctResltNum Result for type 1 fiber muscle biopsy percent Result for type 1 fiber muscle biopsy percent Numeric Values

Only record Type 1 fiber percentage if Type 1 predominance is completed

No references available Adult Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

C19968 Immunohistochemistry dysferlin status IHCDyferlinStat The status of dysferlin in immunohistochemistry The status of dysferlin in immunohistochemistry Dysferlin Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19904 Symptom disease lab data known disease other text SymptSignDisLabDataOTH Text of other symptoms, signs, known diseases, and lab data Text of other symptoms, signs, known diseases, and lab data Other symptoms, signs, known diseases, and lab data Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C12242 Biochemical or genetic test result value BiochemGenTestResltVal Results of the biochemical or genetic test performed on the specimen Results of the biochemical or genetic test performed on the specimen Results (including units) Alphanumeric

Only answered if "Yes" is answered for "Was subsequent biochemical or genetic testing performed?" Include units with results, if applicable.

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C19947 Biopsy and autopsy muscle spindle status BpApMusclSpindlStat The status of the presence of muscle spindles The status of the presence of muscle spindles Muscle spindles Absent;Present Absent;Present Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17902 Elevated creatine kinase value ElevatCreatinKinasVal The elevated creatine kinase value The elevated creatine kinase val Patient Value Numeric Values

No instructions available

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

Free-Form Entry

C19979 Immunohistochemistry CD8 presence status IHCCD8PresStat The status of the presence of CD8 in immunohistochemistry The status of the presence of CD8 in immunohistochemistry CD8 Absent;Present Absent;Present Alphanumeric

If present; specify the percent of lymphocytes

Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19915 Biopsy and autopsy non rimmed vacuoles estimated percentage value BpApNonRimmVacEstCt Non-rimmed vacuoles estimated percentage value Non-rimmed vacuoles estimated percentage value Moderate (present in:) Numeric Values No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

0 100 percent
C19926 Biopsy and autopsy targetoid fibers status BpApTargetFibStat Targetoid fibers status in biopsy Targetoid fibers status in biopsy Targetoid fibers Absent;Sparse;Moderate Absent;Sparse;Moderate Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12260 Biopsy and autopsy perivascular inflammation type BpApPerivasInflamTyp Evidence of vascular damage includes damaged vessels in association with perivascular inflammation and the presence of fibrin thrombi located within vascular spaces Evidence of vascular damage includes damaged vessels in association with perivascular inflammation and the presence of fibrin thrombi located within vascular space Perivascular, Specify Evidence of vascular damage;Thrombi identified in blood vessels Evidence of vascular damage;Thrombi identified in blood vessels Alphanumeric

Only answered if "Perivascular" is answered for "Inflammation"

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

Single Pre-Defined Value Selected

C19958 Immunohistochemistry congenital muscular dystrophy Limb-Girdle muscular dystrophy other stain type IHCOthStainLimGirdCMDTyp Type of other stains used for limb girdle or CMD Type of other stains used for limb girdle or CMD Other stains for limb girdle or congenital muscular dystrophy Laminin a2 /Merosin (300 kDa);Laminin a2/Merosin (80- kDa);Alpha dystroglycan (VIA4);Alpha dystroglycan (IIH);Beta dystroglycan;Beta sarcoglycan;Alpha sarcoglycan;Delta sarcoglycan;Gamma sarcoglycan;Dysferlin;Emerin;Collagen VI;Caveolin 3;Integrin a7;nNOS Laminin a2 /Merosin (300 kDa);Laminin a2/Merosin (80- kDa);Alpha dystroglycan (VIA4);Alpha dystroglycan (IIH);Beta dystroglycan;Beta sarcoglycan;Alpha sarcoglycan;Delta sarcoglycan;Gamma sarcoglycan;Dysferlin;Emerin;Collagen VI;Caveolin 3;Integrin a7;nNOS Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19894 Symptom presentation central nervous system disease text SymptmPresentCNSDisText Central nervous system participant/ subject shows at presentation Central nervous system participant/ subject shows at presentation Central nervous system disease Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C19990 Immunohistochemistry major histocompatability complex status IHCMajHistocompCompStat The status of major histocompatability complex The status of major histocompatability complex Major histocompatability complex Absent;Focal;Diffuse;Sarcolemmal;Cytoplasmic Absent;Focal;Diffuse;Sarcolemmal;Cytoplasmic Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12230 Tissue specimen collection date and time TissSpecmnCollctnDateTime Date (and time if applicable and known) when the tissue specimen was collected Date when the tissue specimen was collected Date of tissue collection Date or Date & Time

Record the date/time according to the ISO 8601, the International Standard for the representation of dates and times (http://www.iso.org/iso/home.html). The date/time should be recorded to the level of granularity known (e.g., year, year and month, compl

No references available Adult;Pediatric Core 3.00 2013-07-25 08:54:08.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

C19937 Biopsy and autopsy lobulated fibers estimated percentage value BpApLobulFibEstCt Lobulated fibers estimated percentage value Lobulated fibers estimated percentage value Moderate (present in:) Numeric Values No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

0 100 percent
C12521 Specimen type 2 fiber muscle biopsy percent result number SpecTyp2FibMuscBiopPctResltNum Result for type 2 fiber muscle biopsy percent Result for type 2 fiber muscle biopsy percent Numeric Values

Only record Type 2 fiber percentage if Type 2 predominance is completed

No references available Adult Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

C19969 Immunohistochemistry emerin status IHCEmerinStat The status of Emerin in immunohistochemistry The status of Emerin in immunohistochemistry Emerin Absent;Normal Absent;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19905 Necrosis severity status NecroSeverStat Severity of the necrosis muscle diagnostic abnormalities Severity of the necrosis muscle diagnostic abnormalities Necrosis Mild;Moderate;Severe Mild;Moderate;Severe Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12243 Microscopy epon embedded tissue abnormality type MicscpyEponEmbedTissAbnrmlyTyp Type of microscopy employed to view abnormalities in epon-embedded tissue specimen Type of microscopy employed to view abnormalities in epon-embedded tissue specimen Abnormalities seen on Light microscopy (Toluidine blue staining);Electron microscopy;Both - light microscopy and electron microscopy Light microscopy (Toluidine blue staining);Electron microscopy;Both - light microscopy and electron microscopy Alphanumeric

No instructions available

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

Single Pre-Defined Value Selected

C19948 Biopsy and autopsy myotentinous insertion sites status BpApMyotentInsertSiteStat The status of myotentinous insertion sites The status of myotentinous insertion sites Myotentinous inseriton sites Absent;Present Absent;Present Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17903 Biopsy and autopsy abnormalities on immunohistochemistry text BpApAbnrmlImmhistchmclTxt Text regarding abnormalities on immunohistochemistry Text regarding abnormalities on immunohistochemistry Other abnormalities noted on immunohistochemistry Alphanumeric

No instructions available

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

Free-Form Entry

C19980 Immunohistochemistry CD8 percentage value IHCCD8PercentVal Percent value of CD8 Percent value of CD8 Present in Numeric Values Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

0 100 percent
C19916 Biopsy and autopsy ragged red fibers status BpApRagRedFibStat Ragged red fibers status in biopsy Ragged red fibers status in biopsy Ragged red fibers Absent;Sparse;Moderate Absent;Sparse;Moderate Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19927 Biopsy and autopsy targetoid fibers estimated percentage value BpApTargetFibEstCt Targetoid fibers estimated percentage value Targetoid fibers estimated percentage value Moderate (present in:) Numeric Values No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

0 100 percent
C12261 Biopsy and autopsy inflammatory cell type BpApInflamCellTyp Type of inflammatory cells identified Type of inflammatory cells identifie Inflammatory cells identified Lymphocytes;Neutrophils;Macrophages;Eosinophils;Microorganisms Lymphocytes;Neutrophils;Macrophages;Eosinophils;Microorganisms Alphanumeric

Only answered if "Inflammatory cells identified" is answered for "Inflammation". Choose all that apply.

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

Multiple Pre-Defined Values Selected

C19959 Immunohistochemistry laminin alpha2 merosin 80 status IHCLaminAlp2Meros80Stat The status of Laminin a2/Merosin (80 kDa) in immunohistochemistry The status of Laminin a2/Merosin (80 kDa) in immunohistochemistry Laminin a2/Merosin (80 kDa) Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19895 Symptom presentation toxin supplement drug exposure text SymptmPresentExpToxSuppDruText Exposure to toxins, supplements, and drugs participant/ subject shows at presentation Exposure to toxins, supplements, and drugs participant/ subject shows at presentation Exposure to toxins, supplements, or drugs (and relationship between exposue and biopsy acquisitions). Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C19991 Immunohistochemistry protein aggregate myopath panel stain type IHCProAggMyoPanImmStainTyp Type of protein aggregate myopathy panel used Type of protein aggregate myopathy panel used Protein aggregate myopathy panel Desmin;Myotilin;aB crystallin;Ubiquitin Desmin;Myotilin;aB crystallin;Ubiquitin Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12231 Laboratory name LabName Name of laboratory where assessment was performed Name of laboratory where assessment was performed Name of laboratory where pathology was performed Alphanumeric

Record the laboratory name where pathology was performed

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

Free-Form Entry

C19938 Blood vessel deposits amyloid suggestive status BldVessDeposSuggAmyStat The status of blood vessel deposits suggestive of amyloid The status of blood vessel deposits suggestive of amyloid Blood vessel deposits suggestive of amyloid Absent;Present Absent;Present Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12524 Inflammation severity status InflamSeverStat Severity of Inflammation muscle diagnostic abnormalities Severity of Inflammation muscle diagnostic abnormalities Inflammation Mild;Moderate;Severe Mild;Moderate;Severe Alphanumeric

No instructions available

No references available Adult Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19970 Immunohistochemistry collagen VI status IHCCollagenVIStat The status of collagen VI in immunohistochemistry The status of collagen VI in immunohistochemistry Collagen VI Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19906 Basophilic fibers presence status BasoFibPresStat Presence of basophilic fibers Presence of basophilic fibers Basophilic fibers, large nuclei Absent;Present Absent;Present Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12247 Biopsy and Autopsy tissue collection method type BpApTissCollMethdTyp The type of method used for collection of the tissue specimen The type of method used for collection of the tissue specimen Biopsy method Punch biopsy;Blister biopsy;Open biopsy;Open;Needle Punch biopsy;Blister biopsy;Open biopsy;Open;Needle Alphanumeric

No instructions available

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

Single Pre-Defined Value Selected

C19949 Biopsy and autopsy additional observation text BpApAdditionObservText The free-text field for recording additional observations about the biopsy or autopsy being performed The free-text field for recording additional observations about the biopsy or autopsy being performe Additional observations Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C17904 Biopsy and autopsy pathological inclusions text BpApPathlgyInclTxt Text describing pathological inclusions (if any) Indicator of pathological inclusions (if any) Describe any pathological inclusions noted Alphanumeric

No instructions available

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

Free-Form Entry

C19981 Immunohistochemistry CD20 presence status IHCCD20PresStat The status of the presence of CD20 in immunohistochemistry The status of the presence of CD20 in immunohistochemistry CD20 Absent;Present Absent;Present Alphanumeric

If present; specify the percent of lymphocytes

Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19917 Biopsy and autopsy cytochrome oxidate negative fibers status BpApCOXNegFibStat Cytochrome oxidate (COX) negative fibers status in biopsy Cytochrome oxidate (COX) negative fibers status in biopsy COX-negative fibers Absent;Sparse;Moderate Absent;Sparse;Moderate Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19928 Biopsy and autopsy moth eaten fibers status BpApMothEatFibStat Moth-eaten fibers status in biopsy/autopsy Moth-eaten fibers status in biopsy/autopsy Moth-eaten fibers Absent;Sparse Absent;Sparse Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12262 Biopsy and autopsy microorganisms name BpApMicroorgName Name of microorganisms identified in biopsy or autopsy specimen Name of microorganisms identified in biopsy or autopsy specimen Microorganisms identified, specify which Alphanumeric

Only answered if "Microorganisms identified" is answered for "Inflammation"

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

Free-Form Entry

C19960 Immunohistochemistry laminin alpha2 merosin 300 status IHCLaminAlp2Meros300Stat The status of Laminin a2/Merosin (300 kDa) in immunohistochemistry The status of Laminin a2/Merosin (300 kDa) in immunohistochemistry Laminin a2/Merosin (300 kDa) Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19896 Elevated erythrocyte sedimentation rate indicator ElevatErythSedimRateInd Indicator of whether participant/subject experienced elevated erythrocyte sedimentation rate Indicator of whether participant/subject experienced elevated erythrocyte sedimentation rate Elevated erythrocyte sedimentation rate (ESR) No;Yes;Unknown No;Yes;Unknown Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19992 Immunohistochemistry desmin aggregate level status IHCDesminAggregLvlStat Level of desmin aggregate Level of desmin aggregate Desmin Normal;Increased Normal;Increased Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12232 Laboratory director name LabDirectorName Name of laboratory director where assessment was performed Name of laboratory director where assessment was performed Name of laboratory director Alphanumeric

No instructions available

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

Free-Form Entry

C19939 Biopsy and autopsy fiber abnormality status BpApAbnrmlyFibStat Presence or absence of fiber abnormalities on a muscle biopsy Presence or absence of fiber abnormalities on a muscle biopsy Abnormalities of fiber type Absent;Present Absent;Present Alphanumeric

Only answered if "Abnormalities of fiber type" is answered for "Which of the following diagnostic abnormalities were noted on histochemical stains?"

No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12525 Biopsy and autopsy fiber abnormality type BpApAbnrmlyFibTyp Fiber type abnormalities on a muscle biopsy Fiber type abnormalities on a muscle biopsy Specify Type 1 predominance;Type 2 predominance;Fiber type grouping Type 1 predominance;Type 2 predominance;Fiber type grouping Alphanumeric

Only answered if "Abnormalities of fiber type" is answered for "Which of the following diagnostic abnormalities were noted on histochemical stains?"

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

Single Pre-Defined Value Selected

C19971 Immunohistochemistry caveolin 3 status IHCCaveolin3Stat The status of caveolin 3 in immunohistochemistry The status of caveolin 3 in immunohistochemistry Caveolin 3 Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

CSV