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Results: 1 to 20 of 55 (representing 23 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

CoA-3-hydroxy-3-methylglutaryl lyase deficiency

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

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

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

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

qCarrier Plus

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

Metabolic Hypoglycemia Sequencing Panel

PreventionGenetics
United States
2322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HMGCL Sequence Analysis

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

HMGCL Sequence & Deletion/Duplication Analysis

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

HMGCL Prenatal Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • E Sequence analysis of select exons

HMGCL Familial Mutation/Variant Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • E Sequence analysis of select exons

HMGCL Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

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

3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene

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

Organic Acid Screen - Urine

Baylor Miraca Genetics Laboratories
United States
1945
  • A Analyte

Acylglycine - Urine

Baylor Miraca Genetics Laboratories
United States
159
  • A Analyte

Acylcarnitine Analysis - Plasma

Baylor Miraca Genetics Laboratories
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

Acylcarnitine Profile, Quantitative and Qualitative, Plasma

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
361
  • A Analyte

Results: 1 to 20 of 55

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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