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Results: 1 to 20 of 71 (representing 25 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

Methylmalonic Acidemia

Fatty Acid Oxidation Laboratory Medical College of Wisconsin
United States
31
  • A Analyte

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

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

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel

PreventionGenetics
United States
2831
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Organic Aciduria Sequencing Panel

PreventionGenetics
United States
2429
  • 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

qCarrier Plus

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

MMACHC. Complete sequencing

Instituto de Medicina Genomica
Spain
71
  • C Sequence analysis of the entire coding region

MMAA. Complete sequencing

Instituto de Medicina Genomica
Spain
71
  • C Sequence analysis of the entire coding region

MUT. Detection of the mutation c.322C>T by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

MCEE. Complete sequencing

Instituto de Medicina Genomica
Spain
71
  • C Sequence analysis of the entire coding region

MUT. Detection of the mutation c.322C>T by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

MMADHC. Complete sequencing

Instituto de Medicina Genomica
Spain
71
  • C Sequence analysis of the entire coding region

MUT. Complete sequencing

Instituto de Medicina Genomica
Spain
71
  • C Sequence analysis of the entire coding region

MTR. Complete sequencing

Instituto de Medicina Genomica
Spain
71
  • C Sequence analysis of the entire coding region

MMAB. Complete sequencing

Instituto de Medicina Genomica
Spain
71
  • C Sequence analysis of the entire coding region

MUT. Complete sequencing

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

MUT. Complete sequencing

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

TCN2. Complete sequencing

Instituto de Medicina Genomica
Spain
71
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 71

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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