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Results: 1 to 20 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

2-OH Glutaric Aciduria Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Organic Aciduria Panel

PreventionGenetics, part of Exact Sciences
United States
3941
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

D-2-hydroxyglutaric aciduria 2, 613657; D2HGA2 (D-2-hydroxyglutaric aciduria) (IDH2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

D-2-hydroxyglutaric aciduria 2, 613657; D2HGA2 (D-2-hydroxyglutaric aciduria) (IDH2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

IDH3A - Isocitrate dehydrogenase deficiency

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

IDH3G - Isocitrate dehydrogenase deficiency

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

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hydroxyglutaric Aciduria Panel

PreventionGenetics, part of Exact Sciences
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

D-2-Hydroxyglutaric Aciduria Type II via the IDH2 Gene - Targeted Variants Analysis

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

2-Hydroxyglutaric Aciduria Panel

Genetic Services Laboratory University of Chicago
United States
34
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

IDH1 and IDH2 Mutation Detection

ARUP Laboratories, Molecular Oncology ARUP Laboratories
United States
22
  • E Sequence analysis of select exons

Organic acidemia / Aciduria and cobalamin deficiency panel. NGS panel of 53 genes.

Genologica Medica
Spain
5353
  • C Sequence analysis of the entire coding region

Vascular Anomalies (VANseq) Expanded Del/Dup Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
5047
  • D Deletion/duplication analysis

Results: 1 to 20 of 30

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.