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Results: 1 to 20 of 58

Tests names and labsConditionsGenes, analytes, and microbesMethods

Alpha-Fucosidase, Leukocytes

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

Lysosomal diseases panel

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
5718
  • E Enzyme assay

NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)

BloodGenetics
Spain
3933
  • C Sequence analysis of the entire coding region

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
2423
  • E Enzyme assay

Liver and Spleen panel

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
76
  • E Enzyme assay

Neurodegenerative panel

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
66
  • E Enzyme assay

Fucosidosis

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • E Enzyme assay

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7750
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

FUCA1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Results: 1 to 20 of 58

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.