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Results: 101 to 117 of 117

Tests names and labsConditionsGenes, analytes, and microbesMethods

GeneAware Ashkenazi Jewish Panel Version 2 (Male)

Baylor Genetics
United States
4437
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Ashkenazi Jewish Panel Version 2 (Female)

Baylor Genetics
United States
4739
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Dihydrolipoamide dehydrogenase deficiency (MSUD type III)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • A Analyte
  • C Sequence analysis of the entire coding region

Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
11
  • T Targeted variant analysis

Invitae Elevated Citrulline (Citrullinemia) Panel

Invitae
United States
95
  • 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

DLD Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing DLD

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

DLD Single Gene

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

Maple Syrup Urine Disease NGS Panel

Fulgent Genetics
United States
24
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51274672
  • 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

Lactic Acidosis-Pyruvate NGS Panel

Fulgent Genetics
United States
9569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish Diseases, 16 Genes

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
1716
  • T Targeted variant analysis

Results: 101 to 117 of 117

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.