U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 41 to 56 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
663308
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
692328
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MUCOLIPIDOSIS TYPE II

Laboratorio de Genetica Clinica SL
Spain
11
  • 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

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 GNPTAB

CeGaT GmbH
Germany
11
  • 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

GNPTAB Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51304674
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis NGS Panel

Fulgent Genetics
United States
2114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • 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

Mucolipidosis II/III

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing

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

Mucolipidosis II/III

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
22
  • E Enzyme assay

Results: 41 to 56 of 56

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.