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Other countries
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
CSGALNACT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States | 253 | 189 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Desbuquois dysplasia and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
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Desbuquois dysplasia core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 4 |
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Desbuquois dysplasia core NGS panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 4 |
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Desbuquois dysplasia core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 4 |
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Desbuquois dysplasia and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
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Desbuquois dysplasia and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
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Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
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Desbuquois dysplasia core NGS panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 4 |
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Desbuquois dysplasia core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 4 |
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Desbuquois dysplasia core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 4 |
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Desbuquois dysplasia and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
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Desbuquois dysplasia and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
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Desbuquois dysplasia and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
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Invitae Congenital Disorders of Glycosylation Panel Invitae United States | 203 | 152 |
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Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
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Mendelics Brazil | 1 | 333 |
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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.