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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 14 | 18 |
|
ALX1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Invitae United States | 44 | 28 |
|
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 5 |
|
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 5 |
|
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 5 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 110 | 45 |
|
PreventionGenetics, part of Exact Sciences United States | 177 | 163 |
|
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 5 |
|
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 5 |
|
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 5 |
|
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States | 130 | 81 |
|
Frontonasal dysplasia 3 (sequence analysis of ALX1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 48 | 48 |
|
Frontonasal dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 3 | 3 |
|
Fulgent Genetics United States | 339 | 61 |
|
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.