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Results: 21 to 40 of 136

Tests names and labsConditionsGenes, analytes, and microbesMethods

JAX SOMASEQ

The Jackson Laboratory for Genomic Medicine
United States
1517
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Endeavor

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

Invitae Monogenic Obesity Panel

Invitae
United States
9268
  • D Deletion/duplication analysis
  • 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

VACTERL Association and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability exome

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

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Colorectal cancer, somatic, 114500 (EP300 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

Rubinstein-Taybi syndrome 2, 613684, Autosomal dominant; RSTS2 (Rubinstein-Taybi syndrome) (MLPA)

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

Rubinstein-Taybi syndrome 2, 613684, Autosomal dominant; RSTS2 (Rubinstein-Taybi syndrome) (EP300 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

Rubinstein-Taybi syndrome 2, 613684, Autosomal dominant; RSTS2 (Rubinstein-Taybi syndrome) (Prenatal) (MLPA)

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

Rubinstein-Taybi syndrome 2, 613684, Autosomal dominant; RSTS2 (Rubinstein-Taybi syndrome) (EP300 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

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

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

Results: 21 to 40 of 136

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.