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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
COL11A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 1 |
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Invitae Connective Tissue Disorders Panel Invitae United States | 195 | 92 |
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PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Invitae Comprehensive Deafness Panel Invitae United States | 405 | 219 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Invitae Stickler Syndrome Panel Invitae United States | 32 | 9 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Lumbar disc degeneration, 603932 (ASPN gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 33 | 10 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
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Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
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Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 360 | 222 |
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Cleft lip, cleft palate and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 19 | 17 |
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Cleft lip, cleft palate and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 19 | 17 |
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Cleft lip, cleft palate and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 19 | 17 |
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Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States | 99 | 65 |
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Cataract panel. NGS panel of 69 genes. Genologica Medica Spain | 146 | 69 |
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Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel. Genologica Medica Spain | 69 | 28 |
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