Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Biomarker genetic assessment type NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
NIH CDEs
  • NINDS
    • Disease
      • General (For all diseases)
        • Classification
          • Supplemental
        • Domain
          • Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • Mitochondrial Disease
        • Classification
          • Supplemental
        • Domain
          • Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
    • Domain
      • Assessments and Examinations
        • Laboratory Tests and Biospecimens/Biomarkers
    • Population
      • Adult
      • Pediatric

# Datatype
Value List

# Permissible value Value meaning name Value meaning definition
Cellular energetics gene sequencing (NGS) (nDNA +mtDNA) Cellular energetics gene sequencing (NGS) (nDNA +mtDNA) Cellular energetics gene sequencing (NGS) (Ndna +mtDNA)
Exome sequencing (NGS) (nDNA) Exome sequencing (NGS) (nDNA) Exome sequencing (NGS) (nDNA)
Mitochondrial gene expression profiling Mitochondrial gene expression profiling Mitochondrial gene expression profiling
Mitochondrial haplotype Mitochondrial haplotype Mitochondrial haplotype
mtDNA copy number (Leukocytes) mtDNA copy number (Leukocytes) mtDNA copy number (Leukocytes)
mtDNA copy number (muscle) mtDNA copy number (muscle) mtDNA copy number (muscle)
mtDNA deletion/duplication (Leukocytes) mtDNA deletion/duplication (Leukocytes) mtDNA deletion/duplication (Leukocytes)
mtDNA deletion/duplication (muscle) mtDNA deletion/duplication (muscle) mtDNA deletion/duplication (muscle)
mtDNA sequencing mtDNA sequencing mtDNA sequencing

# Definition
The types of genetic biomarker from the speciment that were evaluated.

# Designation
Biomarker genetic assessment type

# Identifier Origin Version
XJ6OeW45orA NLM CDEs 12-02-2025-download
BiomarkGenetAssessTyp BRICS Variable Name N/A
C19569 NINDS 1