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Results: 21 to 40 of 59

Tests names and labsConditionsGenes, analytes, and microbesMethods

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Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Ehlers-Danlos Syndrome Panel

Invitae
United States
3817
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Differences of Sex Development (DSD) Panel

PreventionGenetics, part of Exact Sciences
United States
149158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) and Infertility Panel

PreventionGenetics, part of Exact Sciences
United States
223238
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombocytopenia Panel - Expanded

PreventionGenetics, part of Exact Sciences
United States
3233
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Aortopathy Comprehensive Panel

Invitae
United States
6029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniofacial Panel

Genetic Services Laboratory University of Chicago
United States
3135
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene

PreventionGenetics, part of Exact Sciences
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FLNA MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
91
  • D Deletion/duplication analysis

FLNA Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • D Deletion/duplication analysis

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Childhood Epilepsy NGS Panel

Fulgent Genetics
United States
354209
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Cardiac Valvular Dysplasia (FLNA Single Gene Test)

Fulgent Genetics
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Frontometaphyseal Dysplasia (FLNA Single Gene Test)

Fulgent Genetics
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleft Palate/Lip NGS Panel

Fulgent Genetics
United States
12723
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Adolescent/Adult Epilepsy NGS Panel

Fulgent Genetics
United States
18282
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Structural Heart Disease NGS Panel

Fulgent Genetics
United States
7328
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 59

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.