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Results: 1 to 16 of 16

Tests names and labsConditionsGenes and analytesMethods

SLC25A1 Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

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

Combined D-2- and L-2-hydroxyglutaric aciduria

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

SLC25A1 sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

D-2 and L-2 Hydroxyglutaric Aciduria Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
44
  • D Deletion/duplication analysis

Hydroxyglutaric Aciduria Sequencing Panel

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

Organic Aciduria Sequencing Panel

PreventionGenetics
United States
2429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae 2-Hydroxyglutaric Aciduria Panel

Invitae
United States
44
  • 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

SLC25A1

Fulgent Genetics
United States
111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia

Asper Biogene Asper Biogene LLC
Estonia
3738
  • C Sequence analysis of the entire coding region

Developmental Eye Disease panel

Molecular Vision Laboratory
United States
10959
  • C Sequence analysis of the entire coding region

Organic Acids, Full Panel, Quantitative, Random Urine (NY)

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
4261
  • A Analyte

Organic Acids, Full Panel, Quantitative, Random Urine

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
4262
  • A Analyte

D-2- and L-2-hydroxyglutaric aciduria (SLC25A1)

VU University Medical Center Metabolic Unit, PX 1X 009
Netherlands
11
  • A Analyte
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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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