Filters

See more specimen types...

Other countries

Results: 1 to 20 of 20

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

Succinyl CoA:3-oxoacid CoA transferase deficiency

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

Metabolic Hypoglycemia Sequencing Panel

PreventionGenetics
United States
2322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

OXCT1. Complete sequencing

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

Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via the OXCT1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • 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

Succinyl coA 3-Ketoacid Transferase Deficiency, Sequencing OXCT1 Gene

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

Invitae Treatable Neurometabolic Disorders Panel

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

Invitae Ketolysis Disorders Panel

Invitae
United States
52
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Organic Acidemias Panel

Invitae
United States
5949
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Succinyl CoA:3-oxoacid CoA transferase deficiency: OXCT1 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

Succinyl-CoA acetoacetate transferase deficiency

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

SCOT Deficiency

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OXCT1

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

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
297248
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
601504
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Succinyl-CoA:3-Oxoacid CoA Transferase deficiency (sequence analysis of OXCT1 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Succinyl-CoA: 3-Oxoacid CoA Transferase Deficiency: OXCT1 Full Gene Sequencing

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.

Support Center