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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

DOCK8 - MLPA

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis

Hyperinsulinism Panel

Genetic Services Laboratory University of Chicago
United States
1324
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Brain Malformations Panel

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

Hyperinsulinism familial (WES based NGS panel of 20 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
120
  • C Sequence analysis of the entire coding region

Pituitary hormone deficiency (WES based NGS panel of 29 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
129
  • C Sequence analysis of the entire coding region

Pituitary hormone deficiency (WES based NGS panel of 25 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
125
  • C Sequence analysis of the entire coding region

Diabetes panel_v.2.0

CGC Genetics Unilabs
Portugal
1130
  • 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

Hyperinsulinism Panel

Clinical Genomics Laboratory Washington University in St. Louis
United States
418
  • C Sequence analysis of the entire coding region

Atypical Diabetes and ER Stress Disorders Gene Panel

Clinical Genomics Laboratory Washington University in St. Louis
United States
154
  • C Sequence analysis of the entire coding region

FOXA2 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.