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Results: 1 to 20 of 174 (representing 43 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

Microcephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
6478
  • C Sequence analysis of the entire coding region

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
4140
  • 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

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

GLUT1 deficiency syndrome type 1

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

Epilepsy, idiopathic generalized type 12

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

Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia

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

DYT18 - dystonia 18

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

SLC2A1 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

SLC2A1 sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel

PreventionGenetics
United States
8183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Dystonia Sequencing panel

PreventionGenetics
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies

BLOODGENETICS
Spain
3530
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia Exome Panel

Genetic Services Laboratory University of Chicago
United States
1956
  • C Sequence analysis of the entire coding region

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

EpiRapid

Ambry Genetics
United States
3916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel - Comprehensive

Molecular Genetics Laboratory London Health Sciences Centre
Canada
6969
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 174

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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