CDE Detailed Report

Disease: Neuromuscular Diseases
Subdomain Name: Laboratory Tests and Biospecimens%2FBiomarkers
CRF: Muscle Biopsy and Autopsy Tissue

Displaying 1 - 50 of 68
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
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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Free-Form Entry

C12248 Pathologist name PathologistName Name of pathologist who diagnosed the case Name of pathologist who diagnosed the case Name of pathologist who diagnosed the case Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C17900 Age presentation year value AgePresentYearVal Age (in years) of participant/subject at presentation Age (in years) of participant/subject at presentation Age at presentation Numeric Values No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Free-Form Entry

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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12271 Western Blot assay performed name WstBlotAssyPerfName Name(s) of the assay performed Name(s) of the assay performed List the Western Blot assays performed and corresponding results Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12234 Preservation technique used amount value PresrvtnTechnqUseAmntVal Value of the amount of preservation solution or material used to preserve the specimen Value of the amount of preservation solution or material used to preserve the specimen Amount Alphanumeric

Answer for the freezing or fixation technique used. Answer should be recorded in milligrams (mg). If amount used is not known, select Not known.

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

milligram
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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12249 Biopsy and Autopsy histochemical stains diagnostic abnormalities present type BpApHschmStnDiagnAbnrmlyPrsTyp The diagnostic abnormalities present on the histochenmical stains for the participant's/subject's tissue The diagnostic abnormalities present on the histochemical stains for the participant's/subject's tissue Which of the following diagnostic abnormalities were noted on histochemical stains? Fatty replacement;Endomysial fibrosis;Myofiber degeneration;Myofiber regeneration;Abnormalities of fiber type;Hypertrophic fibers;Atrophy/Hypotrophy;Myopathy-associated pathological structures;Inflammation;Abnormal storage material Fatty replacement;Endomysial fibrosis;Myofiber degeneration;Myofiber regeneration;Abnormalities of fiber type;Hypertrophic fibers;Atrophy/Hypotrophy;Myopathy-associated pathological structures;Inflammation;Abnormal storage material Alphanumeric

Choose all that apply

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C17901 Elevated creatine kinase Indicator ElevatCreatinKinasInd Indicator of whether participant/subject experienced elevated creatine kinase levels Indicator of whether participant/subject experienced elevated creatine kinase levels Elevated creatine kinase Yes;No;Unknown Yes;No;Unknown Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

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 Lymphocytes;Neutrophils;Macrophages;Eosinophils 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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12272 Western Blot result WesternBlotReslt Result of the assay(s) performed Result of the assay(s) performed Result Alphanumeric

Units are dependent on the assay performed

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12235 Histochemical stains used type HistchmclStainUseTyp Type of standard histochemical stains used on the tissue specimen Type of standard histochemical stains used on the tissue specimen Which standard histochemical stains were used?

Changed from Supplemental to S-HR based on NMD Start-Up document on 3/11/2016.
H and E;Congo red;Masson trichrome;Myelin stain, specify;Microorganism stains, specify;Other, specify;anti-PGP 9.5;Gomori trichrome;NADH;SDH/COX;PAS;Oil Red O;ATPase 4.3;ATPase 4.6;ATPase 9.4 H and E;Congo red;Masson trichrome;Myelin stain, specify;Microorganism stains, specify;Other, specify;anti-PGP 9.5;Gomori trichrome;NADH;SDH/COX;PAS;Oil Red O;ATPase 4.3;ATPase 4.6;ATPase 9.4 Alphanumeric

Choose all that apply
Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12525 Biopsy and autopsy fiber abnormality type BpApAbnrmlyFibTyp Fiber type abnormalities on a muscle biopsy Fiber type abnormalities on a muscle biopsy Abnormalities of fiber type 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-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12251 Biopsy and autopsy atrophy or hypotrophy type BpApAtrphyHypotrphyTyp Atrophy/ hypertrophy type Atrophy/ hypotrophy type Atrophy/Hypotrophy All fibers within the specimen;Subset of fibers, leading to excessive variation in fiber size;Atrophic/hypertrophic fiber shape All fibers within the specimen;Subset of fibers, leading to excessive variation in fiber size;Atrophic/hypertrophic fiber shape Alphanumeric

Only answered if "Atrophy/Hypotrophy" 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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17902 Elevated creatine kinase value ElevatCreatinKinasVal The elevated creatine kinase value The elevated creatine kinase val Elevated creatine kinase Numeric Values No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Free-Form Entry

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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12273 Biopsy and autopsy normal immunoreactivity assay name BiopsyAutpsyNormImmuAssayName Name of the normal immunoreactivity assay used Name of the normal immunoreactivity assay use Assays with normal immunoreactivity Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12238 Biopsy and autopsy epon embedded tissue abnormalities location type BpApEponEmbedTissAbnrmlLocTyp Type of abnormality observed microscopically in epon-embedded tissue specimen Type of abnormality observed microscopically in epon-embedded tissue specimen Abnormalities noted in Contractile apparatus;Sarcotubular organization;Mitochondria, specify;Myelinated axon number, specify;Myelinated axon clusters, possibly regenerative;Axonal degeneration;Myelination, specify;Mitochondria, specify;Abnormal storage material, specify Contractile apparatus;Sarcotubular organization;Mitochondria, specify (choose all that apply);Myelinated axon number, specify;Myelinated axon clusters, possibly regenerative;Axonal degeneration (active);Myelination, specify;Mitochondria, specify;Abnormal storage material, specify Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12526 Biopsy and autopsy type 1 predominance fiber percentage value BpApTyp1PredomFibPctVal Percentage of Type 1 predominance fiber present Percentage of Type 1 predominance fiber present Percent Type 1 fibers Alphanumeric

Only answered if "Type 1 predominance' fiber is selected
Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12252 Biopsy and autopsy fiber size variation result type BpApFibSizeVariResltTyp Distribution of the atrophic fibers Distribution of the atrophic fiber Specify Single fibers;Groups of fibers;Type 1 fibers only;Type 2 fibers only;Perifascicular distribution Single fibers;Groups of fibers;Type 1 fibers only;Type 2 fibers only;Perifascicular distribution Alphanumeric

Only answered if "Subsets of fibers, leading to excessive variation in fiber size, specify" is answered for "Atrophy/Hypotrophy". Choose all that apply

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Multiple Pre-Defined Values 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 references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12226 Specimen source type SpecmnSourcTyp Type of specimen collection source Type of specimen collection source Is this a biopsy or autopsy specimen? Biopsy;Autopsy Biopsy;Autopsy Alphanumeric

Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12263 Biopsy and autopsy abnormal storage material type BpApAbnmlStrgMatTyp Excesses of material can be detected in some lipid and glycogen storage diseases, which may be evident on Oil Red O and PAS stains, respectively Excesses of material can be detected in some lipid and glycogen storage diseases, which may be evident on Oil Red O and PAS stains, respectivel Abnormal storage material Abnormal cell types found in the biopsy;Excessive glycogen;Excessive intracellular lipid;Liver biopsy performed Abnormal cell types found in the biopsy;Excessive glycogen;Excessive intracellular lipid;Liver biopsy performed Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12274 Biopsy and autopsy reduced immunoreactivity assay name BiopsyAutpsyRedImmunAssayName Reduced immunoreactivity that were noted on the immunohistochemical stains Reduced immunoreactivity that were noted on the immunohistochemical stain Assays with reduced immunoreactivity Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12239 Electron microscopy performed indicator ElectrnMicroPerfInd Indicator of whether electron microscopy was performed Indicator of whether electron microscopy was performed Was electron microscopy 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 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12527 Biopsy and autopsy type 2 predominance fiber percentage value BpApTyp2PredomFibPctVal Percentage of Type 2 predominance fiber present Percentage of Type 2 predominance fiber present Percent of Type 2 fibers Alphanumeric

Only answered if "Type 2 predominance' fiber is selected
Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12253 Biopsy and autopsy atrophy or hyportrophy fiber shape type BpApAtrphyHyptrphyFibShpTyp Atrophic/ hypertrophic fiber shape Atrophic/ hypertrophic fiber shape Atrophic/hypotrophic fiber shape Angulated;Round Angulated;Round Alphanumeric

Only answered if "Atrophic/Hypertrophic fiber shape, specify" is answered for "Atrophy/Hypotrophy"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

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 references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12227 Postmortem interval for autopsy specimen value PstmrtmIntrvlApSpecmnVal Interval in hours of time elapsed between death and the autopsy at which the tissue specimen was collected Interval in hours of time elapsed between death and the autopsy at which the tissue specimen was collected If this is an autopsy specimen what is the approximate postmortem interval? Numeric Values

Only answered if "Autopsy" is answered for "Is this a biopsy or autopsy specimen?"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Free-Form Entry

hour
C12264 Biopsy and autopsy abnormal cell name BpApAbnrmlCellName List of abnormal cell types found in biopsy List of abnormal cell types found in biopsy Abnormal cell types found in the biopsy, Specify which ones Alphanumeric

Only answered if "Abnormal cell types found in the biopsy" is answered for "Abnormal storage material"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12275 Biopsy and autopsy absent immunoreactivity assay name BpApAbsntImnreacAssyName Absent immunoreactivity Absent immunoreactivity Assays with absent immunoreactivity Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12240 Biochemical or genetic test performed indicator BiochemGenTestPerfInd Indicator of whether subsequent biochemical or genetic testing was performed Indicator of whether subsequent biochemical or genetic testing was performed Was subsequent biochemical or genetic testing 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 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12528 Biopsy and autopsy nemaline rods restricted to one fiber text BpApNemaRodRstrct1FibTxt Nemaline rods restricted to one fiber text Nemaline rods restricted to one fiber text Restricted to one fiber type, specify which Numeric Values

Only answered if "Nemaline rod , restricted to one fiber type" is answered for "Myopathy-associated pathological structures"

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Free-Form Entry

C12254 Biopsy and autopsy myopathy-associated pathological structures type BpApMyopAsscPathoStrucTyp The type of myopathy-associated pathological structures seen in the histology of the biopsy or autopsy specimen The type of myopathy-associated pathological structures seen in the histology of the biopsy or autopsy specimen Myopathy-associated pathological structures, specify Central nuclei;Eccentric nuclei;Inclusion bodies/Rimmed vacuoles;Nemaline rods;Ragged red fibers;COX-negative fibers;Central cores;Minicores;Marked hypertrophy of type 1 fibers Central nuclei;Eccentric nuclei;Inclusion bodies/Rimmed vacuoles;Nemaline rods;Ragged red fibers;COX-negative fibers;Central cores;Minicores;Marked hypertrophy of type 1 fibers Alphanumeric

Only answered if "Myopathy-associated pathological structures" 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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17905 Biopsy and autopsy abnormal storage material text BpApAbnrmlStrgMatTxt Text describing biopsy or autopsy material that has been stored abnormally Text describing biopsy or autopsy material that has been stored abnormall Describe any abnormal storage material identified Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12228 Tissue specimen name TissSpecmnName Tissue specimen name collected from the participant Tissue specimen name collected from the participant Tissue collected Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:54:16.0 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12265 Biopsy and autopsy diagnostic abnormalities severity grade BpApDiagnosAbnrmlSeverGrade Severity of the diagnostic muscle abnormalities Severity of the diagnostic muscle abnormalities Mild/Moderate/Severe Mild;Moderate;Severe Mild;Moderate;Severe Alphanumeric

Only answered if Fatty replacement; Endomysial fibrosis; or Myofiber degeneration is answered for "diagnostic abnormalities"

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12276 Biopsy and autopsy mitochondria abnormality type BpApMitochAbnrmlyTyp Type of mitochondria abnormality in muscle biopsy Type of mitochondria abnormality in muscle biopsy Abnormalities noted in Mitochondria, specify Abnormal shape;Abnormal location;Abnormal numbers;Abnormal architecture Abnormal shape;Abnormal location, specify;Abnormal numbers;Abnormal architecture Alphanumeric

Choose all that apply. Only answered if "Mitochondria" is answered for "Abnormalities noted in"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12241 Biochemical or genetic test name BiochemGenTestName Name of the biochemical or genetic test as performed on the specimen Name of the biochemical or genetic test as performed on the specimen Test Name Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12529 Biopsy and autopsy ragged red fibers estimated count BpApRggdRdFibEstCt Ragged red fibers estimated number Ragged red fibers estimated number Ragged red fibers, Estimated number Numeric Values

Only answered if "Ragged red fibers" is answered for "Myopathy-associated pathological structures"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Free-Form Entry

C12255 Biopsy and autopsy central nuclei estimated fibers percent value BpApCentrlNucEstFibPrsVal Estimated percent of fibers in central nuclei Estimated percent of fibers in central nucle Specify estimated percent of fibers (include eccentric nuclei) Numeric Values

Only answered if "Central nuclei" is answered for "Myopathy-associated pathological structures"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Free-Form Entry

C18828 Histochemical stains used other text HistchmclStainUseOTH The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen Other, specify Alphanumeric

Choose all that apply
Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 4000

Free-Form Entry

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.
Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Free-Form Entry

centimeter
C12266 Biopsy and autopsy excessive intracellular lipid severity grade BpApExesIntracellLipSeverGrade Severe lipid storage pathology involves excess Oil Red O+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild lipid storage pathology is difficult to determine at the light microscopic level and may only be evident on Oil Red O stain or on electron microscopy Severe lipid storage pathology involves excess Oil Red O+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild lipid storage pathology is difficult to determine at the light microscopic level and may only be evident on Oil Red O stain or on electron microscop Specify severity Mild;Severe Mild;Severe Alphanumeric

Only answered if "Excessive intracellular lipid" is answered for "Abnormal storage material"

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12517 Fatty replacement severity status FttyReplcmntSeverStat Severity of the Fatty replacement muscle diagnostic abnormalities Severity of the fatty replacement muscle diagnostic abnormalities Fatty replacement 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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected

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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12530 Biopsy autopsy COX-negative fibers estimated count BpApCOXNegFibEstCt COX-negative fibers estimated number COX-negative fibers estimated number COX-negative fibers, Estimated number Alphanumeric

Only answered if "COX-negative fibers" is answered for "Myopathy-associated pathological structures"

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

C12256 Biopsy and autopsy eccentric nuclei estimated fibers percent value BpApEccNucEstFibPrcntVal Estimated percent of fibers in eccentric nuclei Estimated percent of fibers in eccentric nucle Specify estimated percent of fibers (if not quantified above) Numeric Values

Only answered if "Eccentric nuclei" is answered for "Myopathy-associated pathological structures"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Free-Form Entry

C12267 Biopsy and autopsy liver biopsy autopsy results BpApLivBpApReslt The results of the liver biopsy The results of the liver biopsy Liver biopsy performed, Describe results Alphanumeric

Only answered if "Liver biopsy performed" is answered for "Abnormal storage material"

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

Free-Form Entry

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, complete date plus hours and minutes, etc.).
Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations

Free-Form Entry

CSV