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Results: 41 to 60 of 76

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cleft lip panel, cleft palate and associated syndromes. 16-gene NGS panel.

Genologica Medica
Spain
4916
  • C Sequence analysis of the entire coding region

Stickler syndrome panel. 8-gene NGS panel.

Genologica Medica
Spain
308
  • 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

Vitreoretinopathy panel. 23-gene NGS panel.

Genologica Medica
Spain
6323
  • 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

Stickler Syndrome Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
286
  • 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

Comprehensive Metabolism NGS Panel

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

Syndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
22383
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondyloepiphyseal Dysplasia (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Czech Dysplasia (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • 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

Kniest Dysplasia (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Legg-Calvé-Perthes Disease (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypochondrogenesis (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (COL2A1 Single Gene Test)

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vitreoretinopathy

Asper Biogene Asper Biogene LLC
Estonia
5520
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 76

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.