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Results: 1 to 20 of 70 (representing 27 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

Trifunctional protein deficiency

Fatty Acid Oxidation Laboratory Medical College of Wisconsin
United States
32
  • A Analyte

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

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

Trifunctional protein deficiency

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

Trifunctional protein deficiency

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

Hypoparathyroidism Sequencing Panel

PreventionGenetics
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HADHB. 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

HADHB Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

HADHB Sequence Analysis

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

HADHB Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

HADHB Comprehensive - Sequence & Deletion/Duplication Analysis

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

HADHA Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

HADHA Sequence Analysis

Baylor Genetics
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HADHA Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis

HADHA Common Mutation Panel

Baylor Genetics
United States
21
  • E Sequence analysis of select exons

Trifunctional Protein Deficiency Panel

Baylor Genetics
United States
22
  • C Sequence analysis of the entire coding region

Trifunctional Protein Deficiency Deletion/Duplication Panel

Baylor Genetics
United States
22
  • D Deletion/duplication analysis

Results: 1 to 20 of 70

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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