Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 30 (representing 14 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

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

Emory Genetics Laboratory Emory University School of Medicine
United States
1312
  • E Enzyme assay

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

Emory Genetics Laboratory Emory University School of Medicine
United States
131
  • A Analyte

Fucosidosis: Alpha-Fucosidase Enzyme Activity, Leukocytes

Emory Genetics Laboratory Emory University School of Medicine
United States
11
  • E Enzyme assay

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

Emory Genetics Laboratory Emory University School of Medicine
United States
162
  • A Analyte

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
3053447
  • 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

FUCA1 Gene Sequencing

GeneDx
United States
11
  • C Sequence analysis of the entire coding region

Fucosidosis (sequence analysis of FUCA1 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

lysoSEEK™ Sequence Analysis for Lysosomal Storage Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
11588
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FUCA1

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
297248
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 30

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