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Results: 1 to 20 of 83 (representing 30 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

Maple syrup urine disease panel

Centogene AG - the Rare Disease Company
Germany
14
  • C Sequence analysis of the entire coding region

Hydroxyprolinemia via the PRODH2 Gene

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

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Organic Aciduria Sequencing Panel

PreventionGenetics
United States
2429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Maple Syrup Urine Disease Carrier Test, DNA

Molecular Diagnostic Laboratory LabCorp
United States
12
  • T Targeted variant analysis

Amino Acid Profile: Maple Syrup Urine Disease

Biochemical Genetics Laboratory LabCorp
United States
14
  • A Analyte

DBT. Complete sequencing

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

BCKDHB. Detection of the mutations c.548G>C , c.832G>A and c.1114G>T by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

BCKDHA. Complete sequencing

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

BCKDHB. Complete sequencing

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

BCKDHA. Detection of the mutation c.1312T>A by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

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

Amino Acid Analysis - Plasma

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
2526
  • A Analyte

Organic Acid Screen - Urine

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
1945
  • A Analyte

Maple Syrup Urine Disease Type II via the DBT Gene

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

Maple Syrup Urine Disease Type IB via the BCKDHB Gene

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

Maple Syrup Urine Disease Type IA via the BCKDHA Gene

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

Results: 1 to 20 of 83

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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