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Results: 1 to 20 of 57

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Mitochondrial complex III deficiency

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

Mitochondrial complex III deficiency

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Mitochondrial complex III deficiency

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

Mitochondrial complex III deficiency

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

BCS1L Sequence Analysis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Ataxia Exome Panel

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

Mitochondrial Complex III Deficiency Sequencing Panel (Nuclear Genes)

PreventionGenetics
United States
129
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bjornstad Syndrome via the BCS1L Gene

PreventionGenetics
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Gracile syndrome via the BCS1L Gene

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

TTC19 Comprehensive - Sequence & Deletion/Duplication Analysis

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

TTC19 Deletion/Duplication Analysis

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

TTC19 Sequence Analysis

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

TTC19 Sequence Analysis (Prenatal Diagnosis)

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
844637
  • D Deletion/duplication analysis

BCS1L Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
41
  • T Targeted variant analysis

BCS1L Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

BCS1L Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
41
  • D Deletion/duplication analysis

Results: 1 to 20 of 57

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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