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Results: 1 to 20 of 31 (representing 11 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

Hyperammonemia Sequencing Panel

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

SLC25A13-Related Disorders via the SLC25A13 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Urea Cycle Disorders Sequencing Panel

PreventionGenetics
United States
109
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Urea Cycle Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1311
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Cholestasis Sequencing Panel

PreventionGenetics
United States
1815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SLC25A13 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC25A13 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

SLC25A13 Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis

SLC25A13 Sequence Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Amino Acid Analysis - Plasma

Baylor Genetics
United States
2526
  • A Analyte

Orotic Acid/Orotidine Determination - Urine

Baylor Genetics
United States
42
  • 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

Cholestasis Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2521
  • D Deletion/duplication analysis

Cholestasis Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2521
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC25A13 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis Panel by next-generation sequencing (NGS)

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
1918
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

UREA CYCLE DISORDERS

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
98
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 31

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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