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Results: 21 to 40 of 63

Tests names and labsConditionsGenes, analytes, and microbesMethods

Metabolic Hypoglycemia Panel

PreventionGenetics, part of Exact Sciences
United States
3838
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Fatty Acid Oxidation Defects Panel

Invitae
United States
2825
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

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, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Hyperinsulinism Panel

PreventionGenetics, part of Exact Sciences
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) Panel

PreventionGenetics, part of Exact Sciences
United States
2018
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Fatty acid oxidation syndrome panel. NGS panel of 26 genes.

Genologica Medica
Spain
3026
  • C Sequence analysis of the entire coding region

Comprehensive panel of monogenic diabetes. 28-gene NGS panel.

Genologica Medica
Spain
6028
  • C Sequence analysis of the entire coding region

Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes.

Genologica Medica
Spain
7350
  • C Sequence analysis of the entire coding region

Hyperinsulinism

Asper Biogene Asper Biogene LLC
Estonia
3112
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

Congenital Hyperinsulinism Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1911
  • C Sequence analysis of the entire coding region

HADH  Sequence Analysis (Prenatal Sequence Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Hyperinsulinemia hypoglycemia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
77
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lipid Metabolism Deficiency NGS Panel

Fulgent Genetics
United States
8071
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADH Single Gene Test)

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

Results: 21 to 40 of 63

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.