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Results: 121 to 140 of 142

Tests names and labsConditionsGenes, analytes, and microbesMethods

GeneAware Complete Panel Version 2 (Male)

Baylor Genetics
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Genetics
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Niemann-Pick Disease Types A and B Panel

Invitae
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders and Mucopolysaccharidosis Panel

Blueprint Genetics
Finland
15102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3213
  • C Sequence analysis of the entire coding region

Niemann-Pick disease

GeneTech ATS GeneTech Private Limited
India
21
  • C Sequence analysis of the entire coding region

Niemann-Pick disease type A

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
7475
  • C Sequence analysis of the entire coding region

Single gene testing SMPD1

CeGaT GmbH
Germany
21
  • 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

SMPD1

Institute of Human Genetics Medical University Innsbruck
Austria
21
  • S Mutation scanning of the entire coding region

SMPD1 Single Gene

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

Cholestasis NGS Panel

Fulgent Genetics
United States
12166
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Niemann-Pick disease type A-B: SMPD1 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
21
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FTD - ALS panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
2815
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Niemann-Pick Type A (SMPD1), 4 Variants

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
11
  • T Targeted variant analysis

Ashkenazi Jewish Diseases, 16 Genes

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
1716
  • T Targeted variant analysis

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

Results: 121 to 140 of 142

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.