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Results: 1 to 20 of 58 (representing 25 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

Baby Genes Targeted Panel

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

Systemic primary carnitine deficiency

Fatty Acid Oxidation Laboratory Medical College of Wisconsin
United States
22
  • A Analyte

Systemic carnitine deficiency

Fatty Acid Oxidation Laboratory Medical College of Wisconsin
United States
22
  • A Analyte

Carnitine deficiency

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

Carnitine, Free and Total

Biochemical Genetics Laboratory LabCorp
United States
23
  • A Analyte

Fatty Acid Oxidation Panel (MitomeNGS)

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

SLC22A5 (OCTN2) Sequence Analysis

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

SLC22A5 (OCTN2) Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

SLC22A5 (OCTN2) Comprehensive - Sequence & Deletion/Duplication Analysis

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

SLC22A5 (OCTN2) Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Carnitine Determination - Plasma

Baylor Genetics
United States
12
  • A Analyte

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

Systemic Primary Carnitine Deficiency - SLC22A5 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

Acylcarnitine Profile, Quantitative and Qualitative, Plasma

Emory Genetics Laboratory Emory University School of Medicine
United States
361
  • -- Analyte

Family Prep Screen

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

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

Invitae
United States
190150
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 58

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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