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Results: 21 to 40 of 114

Tests names and labsConditionsGenes, analytes, and microbesMethods

Endeavor

PathGroup
United States
73505
  • C Sequence analysis of the entire coding region

OmniSeq INSIGHT

OmniSeq, Inc.
United States
1525
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Invitae Limb and Digital Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Brain Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
247161
  • D Deletion/duplication analysis

Congenital Diaphragmatic Hernia Panel

PreventionGenetics, part of Exact Sciences
United States
11665
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intellectual Disability exome

Genetic Services Laboratory University of Chicago
United States
6216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA)

Genomic Testing Cooperative, LCA
United States
1434
  • R RNA analysis
  • C Sequence analysis of the entire coding region

GTC-Solid Tumor Profile

Genomic Testing Cooperative, LCA
United States
1434
  • C Sequence analysis of the entire coding region

GTC-Hematology Profile Plus Fusion/Expression (DNA and RNA)

Genomic Testing Cooperative, LCA
United States
1254
  • R RNA analysis
  • C Sequence analysis of the entire coding region

GTC-Hematology Profile

Genomic Testing Cooperative, LCA
United States
1247
  • C Sequence analysis of the entire coding region

Coffin-Siris syndrome 2, 614607, Autosomal dominant; CSS2 (Coffin-Siris syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Coffin-Siris syndrome 2, 614607, Autosomal dominant; CSS2 (Coffin-Siris syndrome) (ARID1A gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Coffin-Siris syndrome 2, 614607, Autosomal dominant; CSS2 (Coffin-Siris syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Coffin-Siris syndrome 2, 614607, Autosomal dominant; CSS2 (Coffin-Siris syndrome) (ARID1A gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SmartGenomics GYN Profile with Microsatellite Instability Analysis

PathGroup
United States
652
  • I Microsatellite instability testing (MSI)
  • T Targeted variant analysis

Comprehensive HemeComplete Profile with IGH Somatic Hypermutation

PathGroup
United States
13161
  • E Sequence analysis of select exons
  • T Targeted variant analysis

HemeComplete NextGen Sequencing Assay with Calreticulin Exon 9 Mutation, FLT3 ITD and TKD Analysis and T-Cell Clonality Analysis

PathGroup
United States
23160
  • T Targeted variant analysis

HemeComplete NextGen Sequencing Assay with Calreticulin Exon 9 Mutation, FLT3 ITD and TKD Analysis and JAK2 V617F Quant

PathGroup
United States
18160
  • T Targeted variant analysis

Comprehensive HemeComplete Profile + CALR PCR + FLT3 PCR + BCR/ABL1 IS

PathGroup
United States
17160
  • T Targeted variant analysis

Results: 21 to 40 of 114

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.