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Results: 1 to 20 of 52 (representing 26 labs)

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

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Fatty Acid Oxidation Laboratory Medical College of Wisconsin
United States
92
  • A Analyte

Carnitine Palmitoyltransferase IA Deficiency

Fatty Acid Oxidation Laboratory Medical College of Wisconsin
United States
11
  • A Analyte
  • E Enzyme assay

Carnitine Palmitoyltransferase IA Deficiency

Fatty Acid Oxidation Laboratory Medical College of Wisconsin
United States
12
  • A Analyte

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
329300
  • C Sequence analysis of the entire coding region

CPT1A. Complete sequencing

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

Fatty Acid Oxidation Panel (MitomeNGS)

Baylor Genetics
United States
1617
  • C Sequence analysis of the entire coding region

CPT1A Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CPT1A Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

CPT1A Comprehensive - Sequence & Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Acylcarnitine Analysis - Plasma

Baylor Genetics
United States
2327
  • A Analyte

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

Family Prep Screen

Counsyl
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Disorders Newborn Screening Confirmation Panel

Invitae
United States
7965
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Fatty Acid Oxidation Defects Panel

Invitae
United States
2117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated C0/(C16+C18) Test

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

CarrierMap

Recombine
United States
300298
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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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