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Results: 1 to 20 of 73

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

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

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
326204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
327204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Carnitine deficiency

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

Systemic Primary Carnitine Deficiency via the SLC22A5 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Disorders of Fatty Acid Oxidation Sequencing Panel

PreventionGenetics
United States
2527
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel

PreventionGenetics
United States
7259
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hyperammonemia Sequencing Panel

PreventionGenetics
United States
3837
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Carnitine, Free and Total

Biochemical Genetics Laboratory LabCorp
United States
23
  • A Analyte

Fatty Acid Oxidation Panel (MitomeNGS)

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

SLC22A5 (OCTN2) Sequence Analysis

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

SLC22A5 (OCTN2) Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

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

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

SLC22A5 (OCTN2) Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Carnitine Determination - Plasma

Baylor Miraca Genetics Laboratories
United States
12
  • A Analyte

Results: 1 to 20 of 73

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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