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Results: 1 to 20 of 41 (representing 22 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

Mannosidosis-alpha

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

MAN2B1. Detection of the mutations p.Arg750Trp, p.Leu809Pro and c.1830 1G>C by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

MAN2B1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Alpha-Mannosidosis via the MAN2B1 Gene

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

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

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

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

Alpha-Mannosidosis: Alpha-Mannosidase Enzyme Activity, Leukocytes

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

NGS Neurodegenerative disorders Multi-Gene Panel (60 genes)

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
4160
  • C Sequence analysis of the entire coding region

Alpha-Mannosidosis , Sequencing MAN2B1 Gene

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

GeneAware Complete Panel Version 2 (Male)

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

GeneAware Complete Panel Version 2 (Female)

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

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
11692
  • D Deletion/duplication analysis
  • 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

Family Prep Screen

Counsyl
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 41

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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