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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

Lysosomal/Peroxisomal D/O Scrn, BS

Mayo Clinic Laboratories Mayo Clinic
United States
910
  • A Analyte

Glucotetrasaccharides, U

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

Pompe Disease, BS

Mayo Clinic Laboratories Mayo Clinic
United States
12
  • A Analyte
  • E Enzyme assay

Pompe Disease 2ND Tier NBS, BS

Mayo Clinic Laboratories Mayo Clinic
United States
12
  • A Analyte
  • E Enzyme assay

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoXome MOx (Whole Exome Sequencing)

Centogene AG - the Rare Disease Company
Germany
1319
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

CentoLSD

Centogene AG - the Rare Disease Company
Germany
1218
  • A Analyte

CentoLSD MOx

Centogene AG - the Rare Disease Company
Germany
1236
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoSphingo

Centogene AG - the Rare Disease Company
Germany
1010
  • A Analyte

CentoSphingo MOx

Centogene AG - the Rare Disease Company
Germany
1020
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disorders

Revvity Omics Revvity
United States
75
  • A Analyte

Results: 1 to 11 of 11

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.