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Results: 1 to 20 of 26 (representing 12 labs)

Tests names and labsConditionsGenes and analytesMethods

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

Mannosidosis-beta

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

β-Mannosidase Deficiency via the MANBA Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

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

Emory Genetics Laboratory Emory University
United States
1312
  • E Enzyme assay

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

Emory Genetics Laboratory Emory University
United States
131
  • A Analyte

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

Emory Genetics Laboratory Emory University
United States
162
  • A Analyte

Beta-Mannosidosis: Beta-Mannosidase Enzyme Activity, Leukocytes

Emory Genetics Laboratory Emory University
United States
11
  • E Enzyme assay

β-Mannosidase

Metabolic Disease Laboratory University of Alabama Birmingham
United States
12
  • A Analyte
  • E Enzyme assay

Beta-mannosidosis

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

Lysosomal Storage Disease Panel

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

Syndromic and non syndromic deafness (NGS panel for 127 genes)

CGC Genetics
Portugal
118127
  • C Sequence analysis of the entire coding region

Syndromic deafness (NGS panel for 62 genes)

CGC Genetics
Portugal
5662
  • C Sequence analysis of the entire coding region

Mannosidosis beta (sequence analysis of MANBA 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

MANBA

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

Inherited Metabolic Disorders: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
121101
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disorders: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
8855
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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.

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