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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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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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Mitochondrial DNA depletion syndrome type 11 (deletion/duplication analysis of MGME1 gene) CGC Genetics Unilabs Portugal | 1 | 0 |
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BMPR1B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
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Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
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Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 356 | 177 |
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Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
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PreventionGenetics, part of Exact Sciences United States | 220 | 128 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 171 | 137 |
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Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
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Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain | 83 | 27 |
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Brachydactyly / syndactyly panel. NGS panel of 20 genes. Genologica Medica Spain | 55 | 20 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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Acromesomelic dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 2 | 2 |
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Duzen Laboratories Duzen BBAGUAS Turkey | 3 | 1 |
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Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 13 | 13 |
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Micromelic Dysplasia NGS Panel Fulgent Genetics United States | 140 | 24 |
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Comprehensive Pulmonary-Vascular Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 100 | 86 |
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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 17 | 16 |
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Fulgent Genetics United States | 2 | 1 |
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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.