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Results: 1 to 20 of 159 (representing 41 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Microcephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
6469
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

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

Angelman-like syndrome

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

Epileptic encephalopathy, early infantile type 2

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

Early infantile epileptic encephalopathy type 2

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

Rett/Atypical Rett Syndrome Panel

Genetic Services Laboratory University of Chicago
United States
14
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CDKL5 deletion/duplication analysis

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

CDKL5 sequencing

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

X-Linked Intellectual Disability NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
8081
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region
  • -- 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

Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene

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

EpiFirst - IS

Ambry Genetics
United States
1715
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy: Ohtahara Syndrome NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MECP2, NTNG1, CDKL5. NextGeneDx. Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
13
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
6664
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CDKL5. Complete sequencing

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

SCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
1212
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 159

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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