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Results: 1 to 20 of 93

Tests names and labsConditionsGenes, analytes, and microbesMethods

MPS IV Panel, BS

Mayo Clinic Laboratories Mayo Clinic
United States
22
  • A Analyte

MPS IV Panel, WBC

Mayo Clinic Laboratories Mayo Clinic
United States
22
  • A Analyte

MPS (Eight) Panel, BS

Mayo Clinic Laboratories Mayo Clinic
United States
1010
  • A Analyte

MPS (Nine) Panel, WBC

Mayo Clinic Laboratories Mayo Clinic
United States
1110
  • A Analyte

Hydrops fetalis panel for lysosomal disorders

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
237
  • E Enzyme assay

Lysosomal diseases panel

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
5818
  • E Enzyme assay

Urine GAG study for MPS (Qualitative and Quantitative)

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
81
  • A Analyte

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
2422
  • E Enzyme assay

Liver and Spleen panel

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

Cherry red spot and Neuroregression panel

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

Mucopolysaccharide enzyme panel

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
88
  • E Enzyme assay

Morquio syndrome B

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

GLB1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
404241
  • D Deletion/duplication analysis

Invitae Comprehensive Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Deafness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
405219
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Results: 1 to 20 of 93

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.