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Results: 1 to 20 of 55

Tests names and labsConditionsGenes, analytes, and microbesMethods

D-,L- 2-Hydroxyglutaric Acid, QN, U

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • A Analyte

L2HGDH - NGS including CNV analysis

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

CentoNeuro Panel

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

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • 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

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Nuclear Mitochondrial Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
638419
  • D Deletion/duplication analysis

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

Lysosomal Storage Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

L-2-hydroxyglutaric aciduria, 236792, Autosomal recessive; L2HGA (L-2-hydroxyglutaric aciduria) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

L-2-hydroxyglutaric aciduria, 236792, Autosomal recessive; L2HGA (L-2-hydroxyglutaric aciduria) (L2HGDH 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

L-2-hydroxyglutaric aciduria, 236792, Autosomal recessive; L2HGA (L-2-hydroxyglutaric aciduria) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

L-2-hydroxyglutaric aciduria, 236792, Autosomal recessive; L2HGA (L-2-hydroxyglutaric aciduria) (L2HGDH 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

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

L-2-Hydroxyglutaric Aciduria Type I via the L2HGDH Gene

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

Results: 1 to 20 of 55

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.