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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Craniosynostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 26 |
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Craniosynostosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 26 |
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Short Rib Skeletal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States | 24 | 19 |
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Cranioectodermal Dysplasia 1 (CED1) via the IFT122 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain | 60 | 23 |
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Ciliopathy panel. NGS panel of 99 genes. Genologica Medica Spain | 152 | 97 |
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Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain | 113 | 37 |
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Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain | 83 | 27 |
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Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel. 16-gene NGS panel. Genologica Medica Spain | 24 | 16 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 20 | 20 |
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Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 48 | 48 |
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Micromelic Dysplasia NGS Panel Fulgent Genetics United States | 140 | 24 |
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Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel Fulgent Genetics United States | 188 | 15 |
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Fulgent Genetics United States | 339 | 61 |
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Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 22 | 17 |
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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 47 | 44 |
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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 26 | 22 |
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Quantitative Genomic Medicine Laboratories, SL Spain | 135 | 136 |
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Craniosynostosis syndromes Panel CeGaT GmbH Germany | 20 | 20 |
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