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Results: 1 to 20 of 129

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Lysosomal/Peroxisomal D/O Scrn, BS

Mayo Clinic Laboratories Mayo Clinic
United States
1011
  • A Analyte

Hepatosplenomegaly Panel, Plasma

Mayo Clinic Laboratories Mayo Clinic
United States
51
  • A Analyte

Hepatosplenomegaly Panel, Blood Spot

Mayo Clinic Laboratories Mayo Clinic
United States
51
  • A Analyte

Acid Sphingomyelinase, Leukocytes

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • E Enzyme assay

Oxysterols, B

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

Oxysterols, BS

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

Oxysterols, P

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • 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
2423
  • E Enzyme assay

Plasma Chitotriosidase

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
31
  • 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

Niemann Pick Disease A and B

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
21
  • 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

SMPD1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Carrier Screening Ashkenazi Jewish Panel

Ambry Genetics
United States
5147
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Cholestasis Panel

PreventionGenetics, part of Exact Sciences
United States
13069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 129

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.