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Results: 1 to 20 of 43

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

Aspartylglucosaminuria

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

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
326204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
327204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

AGA Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region

AGA Prenatal Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • E Sequence analysis of select exons

AGA Familial Mutation/Variant Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • E Sequence analysis of select exons

Aspartylglucosaminuria via the AGA Gene

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

Aspartylglucosaminidase Enzyme Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • 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

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes

Reference Laboratory Genetics
Spain
10882
  • C Sequence analysis of the entire coding region

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes

Reference Laboratory Genetics
Spain
10978
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease

Asper Biogene Asper Biogene LLC
Estonia
7050
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (NGS panel of 109 genes)

CGC Genetics
Portugal
117108
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (NGS panel of 109 genes)

CGC Genetics
Portugal
117108
  • 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

Results: 1 to 20 of 43

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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