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Results: 1 to 18 of 18

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

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Dystonia Exome

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

Invitae Niemann-Pick Disease Types A and B Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Niemann-Pick Disease Type C Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ISCA2 Single Gene

Fulgent Genetics
United States
131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Niemann-Pick disease A/B: SMPD1 Sequencing

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8687
  • C Sequence analysis of the entire coding region

Dystonia All Panel

CeGaT GmbH
Germany
4954
  • C Sequence analysis of the entire coding region

Hereditary Degenerative Syndromes Panel

CeGaT GmbH
Germany
2849
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Niemann-Pick disease typa A and B

Laboratory of Human Genetics GENOMED Health Care Center
Poland
31
  • C Sequence analysis of the entire coding region

Niemann-Pick disease, type A .Acid Sphingomyelinase Deficiency-SMPD1

GGA - Galil Genetic Analysis
Israel
11
  • C Sequence analysis of the entire coding region

Acid Sphingomyelinase Deficiency

Molecular Genetics Laboratory Genetrack Biolabs Inc.
Canada
12
  • T Targeted variant analysis

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

Test for Acid Sphingomyelinase Deficiency

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • T Targeted variant analysis

Niemann Pick Disease Type A

Center for Human Genetics, Inc
United States
11
  • T Targeted variant analysis

Acid sphingomyelinase

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

Results: 1 to 18 of 18

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.