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Results: 1 to 20 of 52

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Comprehensive Familial Hyperinsulinism Panel

Genetic Services Laboratory University of Chicago
United States
1014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperinsulinemic hypoglycemia familial 2

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KCNJ11 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis

KCNJ11 sequencing

Genetic Services Laboratory University of Chicago
United States
21
  • 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

Level 1: Congenital Hyperinsulinisim Panel

Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Hyperinsulinism Sequencing Panel

PreventionGenetics
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Maturity Onset Diabetes of the Young (MODY) Sequencing Panel

PreventionGenetics
United States
1212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KCNJ11 -Related Congenital Hyperinsulinism via the KCNJ11 gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEKĀ® 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

KCNJ11

Department of Clinical Genetics Odense University Hospital
Denmark
21
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Monogenic Diabetes NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
5326
  • C Sequence analysis of the entire coding region

Epilepsy and Seizure Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
164107
  • D Deletion/duplication analysis

Endocrine Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
10857
  • D Deletion/duplication analysis

Familial hyperinsulinism (NGS panel of 9 genes)

CGC Genetics
Portugal
39
  • C Sequence analysis of the entire coding region

Familial hyperinsulinism (NGS panel of 9 genes)

CGC Genetics
Portugal
39
  • C Sequence analysis of the entire coding region

Maturity-Onset Diabetes of the Young NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
3113
  • C Sequence analysis of the entire coding region

NESIDIOBLASTOSIS

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 52

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.

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