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Results: 1 to 20 of 24

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 Center
Canada
7850
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy Panel - Comprehensive

Molecular Genetics Laboratory London Health Sciences Center
Canada
6969
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

NEU1. Complete sequencing

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

Inheritest NGS, Comprehensive

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

Sialidosis

Integrated Genetics Westborough Integrated Genetics
United States
21
  • C Sequence analysis of the entire coding region

Sialidosis

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
6574
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
174204
  • 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

Metabolic Storage Disorders Panel Sequencing, 51 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
5651
  • C Sequence analysis of the entire coding region

NEU1

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
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

Intellectual Disability NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
192106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
598343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.