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Results: 21 to 40 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Monogenic Inflammatory Bowel Disease Panel

Invitae
United States
10867
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Loeys-Dietz Syndrome Panel

Invitae
United States
177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Marfan syndrome panel. 30-gene NGS panel.

Genologica Medica
Spain
7130
  • C Sequence analysis of the entire coding region

Craniosynostosis panel. NGS panel of 37 genes.

Genologica Medica
Spain
11337
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome panel. 32-gene NGS panel.

Genologica Medica
Spain
8532
  • C Sequence analysis of the entire coding region

Aortic disease panel. 41-gene NGS panel.

Genologica Medica
Spain
9441
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

Preventive 59

Genologica Medica
Spain
17259
  • C Sequence analysis of the entire coding region

Connective Tissue Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
11245
  • C Sequence analysis of the entire coding region

Loeys-Dietz Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
74
  • C Sequence analysis of the entire coding region

Aortic Aneurysm Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
127
  • C Sequence analysis of the entire coding region

TGFBR1

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

ACMG Secondary Findings (Medically Actionable Genes, Including Cardio and Cancer) NGS Panel

Fulgent Genetics
United States
17759
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Loeys-Dietz Syndrome NGS Panel

Fulgent Genetics
United States
156
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS Panel

Fulgent Genetics
United States
33961
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hereditary Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
128130
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 47

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.