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Results: 21 to 40 of 51

Tests names and labsConditionsGenes, analytes, and microbesMethods

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

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 Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Methylmalonic Acidemia Panel

PreventionGenetics, part of Exact Sciences
United States
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
4160
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Malonyl-CoA decarboxylase deficiency (sequence analysis of MLYCD gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

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

Organic acidemia / Aciduria and cobalamin deficiency panel. NGS panel of 53 genes.

Genologica Medica
Spain
5353
  • C Sequence analysis of the entire coding region

Fatty Acid Oxidation Disorders Panel, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2325
  • C Sequence analysis of the entire coding region

MLYCD Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Lipid Metabolism Deficiency NGS Panel

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

Hypomyelinating Leukodystrophy NGS Panel

Fulgent Genetics
United States
22562
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Malonyl-CoA Decarboxylase Deficiency (MLYCD Single Gene Test)

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

Methylmalonic Aciduria and Homocystinuria

Asper Biogene Asper Biogene LLC
Estonia
2223
  • C Sequence analysis of the entire coding region

MALONIC ACIDURIA

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

Invitae Elevated C3-DC Panel

Invitae
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 51

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.