Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 34 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7850
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Fucosidosis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fucosidosis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
92170
  • C Sequence analysis of the entire coding region

Comprehensive Neurogenetics Panel (359 genes)

Sherbrooke Genomic Medicine
Canada
6035
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease: Panel Enzyme Activity (12 Enzymes), Leukocytes

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
1312
  • E Enzyme assay

Oligosaccharidosis and Congenital Disorders of Glycosylation: High resolution Oligosaccharide (Free Glycan) Profile, Urine

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
131
  • A Analyte

Fucosidosis: Alpha-Fucosidase Enzyme Activity, Leukocytes

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • E Enzyme assay

Lysosomal Storage Disease: Glycosaminoglycans (GAGs) and Oligosaccharide Profile, Urine

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
162
  • A Analyte

Fucosidosis , Sequencing FUCA1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Oligosaccharidoses Panel

Invitae
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neurodegeneration with Brain Iron Accumulation Panel

Invitae
United States
1611
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fucosidosis

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
136141
  • T Targeted variant analysis

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fucosidosis

bio.logis Center for Human Genetics
Germany
11
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
6775
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 34

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