Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Genetic test mitochondrial DNA mutation quantitative analysis heteroplasmy level type NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
 NIH CDEs
  • ▼ NINDS
    • ▼ Disease
      • ▼ 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

UUID: ccc06a3a-e9d5-53b8-a5c5-ee516d66fecc

Value List

# Permissible value Value meaning name Value meaning definition

UUID: 10ee2590-44c2-5b03-8b22-33541cdc13f6

Blood Blood Blood

UUID: cb5f3e0f-e20e-5e94-931d-b8199dd93ad3

Buccal cells Buccal cells Buccal cells

UUID: bb741b1f-9270-570e-9487-e3f89aa9ba0c

Muscle Muscle Muscle

UUID: 21fef106-661d-5ade-8b48-6105116bb60b

Other Other Other

UUID: 92f55ed7-896e-5a8a-a03b-31654e7fe8c9

Urinary sediment Urinary sediment Urinary sediment

# Definition

UUID: 7073477d-fdb6-55d9-9a2c-97a3eb8a7d2e

Type of heteroplasmy level in quantitative analysis for mitochondrial DNA mutation

# Designation

UUID: 9ec61351-a7fc-576f-9a7c-dd19eca85525

Genetic test mitochondrial DNA mutation quantitative analysis heteroplasmy level type

# Identifier Origin Version

UUID: 23a80508-4c21-56d0-81b5-d71b944ba68b

Xk2Xe_E5oHC NLM CDEs 12-02-2025-download

UUID: 3d1ac573-98f5-57f3-a700-66444aa9fd33

GenetcTestMitoDNAMutQntAnHLTyp BRICS Variable Name N/A

UUID: c31b2acf-aa9e-5fb9-9345-d7702ea1c6ae

C19607 NINDS 1