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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

Urea Cycle Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Horizon 137 Male

Natera, Inc.
United States
130133
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Horizon 274 Male

Natera, Inc.
United States
244254
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Horizon 274 Plus TSE

Natera, Inc.
United States
265275
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 274

Natera, Inc.
United States
265274
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 137 plus TSE

Natera, Inc.
United States
135138
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 137

Natera, Inc.
United States
135137
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 274

Natera, Inc.
United States
265274
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SLC25A13 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

Gluconeogenesis Disorders

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
54
  • C Sequence analysis of the entire coding region

Cholestasis

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
135
  • C Sequence analysis of the entire coding region

Invitae Elevated Citrulline (Citrullinemia) Panel

Invitae
United States
95
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Urea Cycle Disorders Panel

Invitae
United States
1310
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Citrin deficiency, SLC25A13 sequencing

Molecular Diagnostics Laboratory Seoul National University Hospital
South Korea
11
  • C Sequence analysis of the entire coding region

Citrin deficiency

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • 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.