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Results: 1 to 20 of 43 (representing 25 labs)

Tests names and labsConditionsGenes and analytesMethods

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 6

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

Hyperammonemia Sequencing Panel

PreventionGenetics
United States
3837
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Urea Cycle Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1311
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • 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

GLUD1-Related Congenital Hyperinsulinism via the GLUD1 Gene

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

GLUD1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

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

GLUD1

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

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

FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM)

Laboratorio de Genetica Clinica SL
Spain
55
  • C Sequence analysis of the entire coding region

Familial Hypoglycemia Hyperinsulinemia Type 6 , Sequencing Exons (6-7,11-12) GLUD1 Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Familial Hypoglycemia Hyperinsulinemia Type 6 , Sequencing GLUD1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
11692
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Treatable Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
7251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal Glucose/MODY Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4931
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 43

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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