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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

NeXT Dx

Personalis, Inc.
United States
1413
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region

FusionPlex Solid Tumor Panel

Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington
United States
3114
  • R RNA analysis

Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (PRKACA 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Solid and brain tumor fusion panel

Laboratory for Molecular Pediatric Pathology Boston Children's Hospital
United States
1426
  • E Sequence analysis of select exons

Cortical Malformations and Epilepsy Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
3539
  • C Sequence analysis of the entire coding region

Vascular Anomalies Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
165
  • C Sequence analysis of the entire coding region

Comprehensive Hematologic Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2215
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Comprehensive Solid Tumor Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2315
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Congenital Heart Defects Panel 

CGC Genetics Unilabs
Portugal
1208
  • C Sequence analysis of the entire coding region

Ciliopathies panel_v.2.0

CGC Genetics Unilabs
Portugal
1184
  • C Sequence analysis of the entire coding region

Bone diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
1662
  • C Sequence analysis of the entire coding region

Cardioacrofacial dysplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Paired Tumor/Normal - Comprehensive Hematologic Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2215
  • D Deletion/duplication analysis
  • R RNA analysis
  • 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

Paired Tumor/Normal - Comprehensive Solid Tumor Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2315
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Pigmented nodular adrenocortical disease, primary: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
44
  • C Sequence analysis of the entire coding region

Cancer RNA Fusion Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2117
  • R RNA analysis
  • C Sequence analysis of the entire coding region

PRKACA Single Gene

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

Somatic Overgrowth Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
8649
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.