Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 22 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

Acid Sphingomyelinase Deficiency

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • T Targeted variant analysis

Carnitine palmitoyltransferase II deficiency

Institute of Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
11
  • A Analyte
  • C Sequence analysis of the entire coding region

Invitae Niemann-Pick Type C Panel

Invitae
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ISCA2

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

C18orf8

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3053447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Niemann-Pick A/B Disease

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

NGS Non-immune Hydrops Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8787
  • 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

Niemann-Pick Disease (Type A and B): SMPD1 Gene Deletion/Duplication

Emory Genetics Laboratory Emory University School of Medicine
United States
31
  • D Deletion/duplication analysis

Niemann-Pick Disease (Type A and B): SMPD1 Full Gene Sequencing

Emory Genetics Laboratory Emory University School of Medicine
United States
31
  • C Sequence analysis of the entire coding region

epiSEEKĀ® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
630431
  • 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
11
  • T Targeted variant analysis

Acid Sphingomyelinase Deficiency

Institute of 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

Sphingomyelinase

Biochemical Genetics Laboratory University of Illinois Medical Center - Chicago
United States
11
  • E Enzyme assay

Test for Acid Sphingomyelinase Deficiency

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

Niemann Pick Disease Type A

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

Results: 1 to 20 of 22

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.

Support Center