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Results: 81 to 100 of 108

Tests names and labsConditionsGenes, analytes, and microbesMethods

GLUTARIC ACIDURIA TYPE 1

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Male)

Baylor Genetics
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Genetics
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
318252
  • C Sequence analysis of the entire coding region

Glutaric aciduria type I

Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
11
  • A Analyte
  • C Sequence analysis of the entire coding region

Invitae Elevated C5-DC (Glutaric Acidemia Type I) Test

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

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia

Asper Biogene Asper Biogene LLC
Estonia
3940
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glutaryl-CoA dehydrogenase deficiency

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

Single gene testing GCDH

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Dystonia All Panel

CeGaT GmbH
Germany
4954
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • C Sequence analysis of the entire coding region

Hereditary Degenerative Syndromes Panel

CeGaT GmbH
Germany
2849
  • C Sequence analysis of the entire coding region

GCDH

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

Glutaric aciduria Type I (GA1)

Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
India
11
  • C Sequence analysis of the entire coding region

Mitochondrial Diseases (mtDNA and 217 nuclear genes)

Asper Biogene Asper Biogene LLC
Estonia
89210
  • C Sequence analysis of the entire coding region

GCDH Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 81 to 100 of 108

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.