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Results: 1 to 20 of 30

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

Comprehensive Familial Hyperinsulinism Panel

Genetic Services Laboratory University of Chicago
United States
810
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Level 2: Expanded Congenital Hyperinsulinism Panel

Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
United States
76
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HADH

Department of Clinical Genetics Odense University Hospital
Denmark
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Congenital Hyperinsulinism NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
89
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1012
  • C Sequence analysis of the entire coding region

HADH Gene Sequencing

GeneDx
United States
21
  • C Sequence analysis of the entire coding region

HADH

Medizinisch Genetisches Zentrum München MGZ München
Germany
21
  • C Sequence analysis of the entire coding region

HADH Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

HADH

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
297248
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Fatty Acid Oxidation Deficiency NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
2322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Endocrine Disorders: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
10757
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
601504
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HNF4A mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
11
  • C Sequence analysis of the entire coding region

HADH Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 30

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.