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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Osteopetrosis and Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 28 |
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Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 28 |
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Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 14 |
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Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 14 |
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Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States | 4 | 14 |
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Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States | 148 | 73 |
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Invitae Congenital Heart Disease Panel Invitae United States | 107 | 55 |
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Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States | 130 | 81 |
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Cataract panel. NGS panel of 69 genes. Genologica Medica Spain | 146 | 69 |
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Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain | 58 | 31 |
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Congenital structural heart disease panel. NGS panel of 62 genes. Genologica Medica Spain | 113 | 62 |
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Osteoporosis and bone dysplasia panel. 25-gene NGS panel. Genologica Medica Spain | 56 | 25 |
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Craniometaphyseal dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 2 | 2 |
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GJA1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 8 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 8 | 1 |
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Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States | 332 | 167 |
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Oculodentodigital Dysplasia (GJA1 Single Gene Test) Fulgent Genetics United States | 6 | 1 |
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Fulgent Genetics United States | 98 | 43 |
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Structural Heart Disease NGS Panel Fulgent Genetics United States | 73 | 28 |
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Congenital Heart Defect NGS Panel Fulgent Genetics United States | 377 | 114 |
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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.