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Results: 1 to 18 of 18

Tests names and labsConditionsGenes and analytesMethods

Combined oxidative phosphorylation deficiency type 1

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

CoA-3-methylcrontonyl carboxylase 2 deficiency

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

Combined Oxidative Phosphorylation Deficiency 1

(AC) Atlanta Center: Medical Neurogenetics, LLC.
United States
11
  • C Sequence analysis of the entire coding region

GFM1 Sequence Analysis (Prenatal Diagnosis)

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

GFM1 Sequence Analysis

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

GFM1 Deletion/Duplication Analysis

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

GFM1 Comprehensive - Sequence & Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
844637
  • 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

nucSEEK® Focus Nuclear Mitochondrial Gene Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
166172
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leukodystrophy and Leukoencephalopathy Panel

CeGaT GmbH
Germany
3635
  • C Sequence analysis of the entire coding region

Leukodystrophy / Leukencephalopathy Panel

CeGaT GmbH
Germany
3635
  • C Sequence analysis of the entire coding region

Combined oxidative phosphorylation deficiency type 1 (sequence analysis of GFM1 gene)

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

GFM1

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

Nuclear-Mito NGS Panel

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

Intellectual Disability NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lactic Acidosis-Pyruvate NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
9469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Combined Oxidative Phosphorylation Deficiency 1

Medizinisch Genetisches Zentrum München MGZ München
Germany
21
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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