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Results: 1 to 20 of 100

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Myeloid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
3254
  • X Mutation scanning of select exons

Coffin-Siris syndrome Panel

Genetic Services Laboratory University of Chicago
United States
711
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tempus xT assay

Tempus Labs, Inc.
United States
2594
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Borjeson-Forssman-Lehmann syndrome

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

Neurodevelopment-Expanded (parental co-seg)

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IDNext (parental co-seg)

Ambry Genetics
United States
222140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics
United States
6550
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy - Intellectual Disability - Autism Spectrum Disorder

Amplexa Genetics Amplexa Genetics A/S
Denmark
1569
  • S Mutation scanning of the entire coding region

TriSeq Clinical Sequencing Panel - Solid Tumor

Providence St. Joseph Health Molecular Genomics Laboratory Providence St Joseph Health
United States
1366
  • C Sequence analysis of the entire coding region

Myeloid AML Comprehensive Panel​, Sequencing

Providence St. Joseph Health Molecular Genomics Laboratory Providence St Joseph Health
United States
128
  • E Sequence analysis of select exons

Comprehensive Monogenic Obesity Panel

PreventionGenetics
United States
4351
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PHF6 gene sequence and deletion/duplication

Ambry Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodevelopment-Expanded

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IDNext

Ambry Genetics
United States
222140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Neuro

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ProvSeq 523

Providence St. Joseph Health Molecular Genomics Laboratory Providence St Joseph Health
United States
1523
  • C Sequence analysis of the entire coding region

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel

PreventionGenetics
United States
4342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-Linked Intellectual Disability Panel

PreventionGenetics
United States
190134
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 100

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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