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Results: 21 to 40 of 149

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Hyperammonemia Panel

PreventionGenetics, part of Exact Sciences
United States
6663
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypoglycemia Panel - Expanded

PreventionGenetics, part of Exact Sciences
United States
131115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD (MCAD deficiency) (Medium chain acyl-CoA dehydrogenase deficiency) (ACADM gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD (MCAD deficiency) (Medium chain acyl-CoA dehydrogenase deficiency) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD (MCAD deficiency) (Medium chain acyl-CoA dehydrogenase deficiency) (Medium chain acyl-CoA dehydrogenase deficiency) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD (MCAD deficiency) (Medium chain acyl-CoA dehydrogenase deficiency) (ACADM gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Hyperammonemia Panel

Invitae
United States
7572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen without X-linked Disorders

Invitae
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Invitae
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Medium Chain Acyl-CoA Dehydrogenase Deficiency

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

MCADD Comprehensive Testing via Sanger Sequencing

Medical Genomics Laboratory Department of Genetics UAB
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ACADM - Medium chain Acyl-CoA Dehydrogenase deficiency

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Disorders of Fatty Acid Oxidation (FAOD) Panel

PreventionGenetics, part of Exact Sciences
United States
3232
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
10683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Results: 21 to 40 of 149

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.