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Results: 1 to 20 of 56 (representing 24 labs)

Tests names and labsConditionsGenes and analytesMethods

Comprehensive mitochondrial disorders panel

Centogene AG - the Rare Disease Company
Germany
1181
  • C Sequence analysis of the entire coding region

Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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

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

Comprehensive Neurogenetics Panel (359 genes)

Sherbrooke Genomic Medicine
Canada
6035
  • C Sequence analysis of the entire coding region

SLC25A15 Comprehensive - Sequence & Deletion/Duplication Analysis

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

SLC25A15 Deletion/Duplication Analysis

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

SLC25A15 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

SLC25A15 Sequence Analysis

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

MitoMet®Plus aCGH Analysis

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

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

Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication, 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication)

ARUP Laboratories, Molecular Genetics and Genomics
United States
1157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Triple H Syndrome , Sequencing SLC25A15 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
11692
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Treatable Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
7251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders and Mucopolysaccharidosis Panel

Blueprint Genetics
Finland
1599
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperammonemia and Urea Cycle Disorder Panel

Blueprint Genetics
Finland
245
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 56

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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