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Results: 21 to 40 of 152

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Neurodevelopmental Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
404241
  • D Deletion/duplication analysis

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

Myeloid NextGen Sequencing Assay with Calreticulin Exon 9 Mutation

PathGroup
United States
1665
  • T Targeted variant analysis

Myeloid NextGen Sequencing Assay

PathGroup
United States
1665
  • T Targeted variant analysis

Myeloid NextGen Sequencing Assay with FLT3 ITD and TKD Analysis

PathGroup
United States
1665
  • T Targeted variant analysis

Comprehensive Myeloid Profile + CALR PCR + FLT3 PCR

PathGroup
United States
1665
  • T Targeted variant analysis

Invitae Monogenic Obesity Panel

Labcorp Genetics (formerly Invitae) LabCorp
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

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

Epilepsy Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1166
  • 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

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-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

Borjeson-Forssman-Lehmann syndrome, 301900, X-linked recessive; BFLS (Borjeson-Forssman-Lehmann syndrome) (PHF6 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

Borjeson-Forssman-Lehmann syndrome, 301900, X-linked recessive; BFLS (Borjeson-Forssman-Lehmann syndrome) (PHF6 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

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

Comprehensive HemeComplete Profile with IGH Somatic Hypermutation

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

Results: 21 to 40 of 152

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.