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Results: 41 to 60 of 74

Tests names and labsConditionsGenes, analytes, and microbesMethods

Lymphoproliferative syndrome and differential diagnosis (WES based NGS panel for 34 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
134
  • C Sequence analysis of the entire coding region

Immunodeficiency 14 (sequence analysis of PIK3CD gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Immunodeficiency (deletion/duplication analysis of PIK3CD gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Immunodeficiencies and Immunologic Diseases Panel (Complete)

Mendelics
Brazil
1397
  • C Sequence analysis of the entire coding region

OnkoSight Advanced Comprehensive Solid Tumor Panel (DNA/RNA)

BioReference Health
United States
1523
  • C Sequence analysis of the entire coding region

OnkoSight Advanced 523 Gene NGS Panel

BioReference Health
United States
1523
  • C Sequence analysis of the entire coding region

OncoAlly™ Solid Tumor Analysis

Variantyx, Inc.
United States
1433
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • R RNA analysis

AUTOINFLAMMATORY SYNDROMES EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1108
  • E Sequence analysis of select exons

Solid Tumor Expanded Panel

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
1523
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Roifman-Chitayat syndrome, digenic: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
12
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Digestive Disease panel

Genetic Services Laboratory University of Chicago
United States
168
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hemophagocytic Lymphohistiocytosis (HLH) Panel 

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe-Chronic EBV (CAEBV) Immunodeficiency Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
7044
  • C Sequence analysis of the entire coding region

Humoral dysfunction panel

Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
2525
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Immunodeficiency: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
6960
  • C Sequence analysis of the entire coding region

Activated PI3K-Delta Syndrome (PIK3CD Single Gene Test)

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

Results: 41 to 60 of 74

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.