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Results: 1 to 20 of 87

Tests names and labsConditionsGenes and analytesMethods

Microcephaly Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
7279
  • D Deletion/duplication analysis

New Born testing (CentoICU)

Centogene AG - the Rare Disease Company
Germany
767514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

Microcephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
6470
  • C Sequence analysis of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

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

Rapid microarray (CGH and SNP)

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

Pitt-Hopkins syndrome

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

Pitt-Hopkins syndrome

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

TCF4 deletion/duplication analysis

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

TCF4 sequencing

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

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection

PreventionGenetics
United States
199222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection

PreventionGenetics
United States
147153
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autism Spectrum Disorders Sequencing Panel with CNV Detection

PreventionGenetics
United States
102107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection

PreventionGenetics
United States
90110
  • 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

Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection

PreventionGenetics
United States
1313
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Corneal Dystrophies Sequencing Panel with CNV Detection

PreventionGenetics
United States
3926
  • 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 Centre
Canada
6969
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Pitt-Hopkins Syndrome via TCF4 Gene Sequencing with CNV Detection

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

TCF4. Complete sequencing

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

Results: 1 to 20 of 87

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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