U.S. flag

An official website of the United States government

Filters

reset all

Other countries

Results: 1 to 3 of 3

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

Acid Sphingomyelinase Deficiency

Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
11
  • E Enzyme assay
  • C Sequence analysis of the entire coding region

Acid sphingomyelinase

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
31
  • E Enzyme assay

Results: 1 to 3 of 3

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.