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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 693 | 388 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 356 | 177 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 486 | 293 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 525 | 338 |
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Molecular Vision Laboratory United States | 342 | 268 |
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PreventionGenetics, part of Exact Sciences United States | 91 | 82 |
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Leber Congenital Amaurosis Panel PreventionGenetics, part of Exact Sciences United States | 27 | 28 |
|
Autosomal Recessive Retinitis Pigmentosa (RP) Panel PreventionGenetics, part of Exact Sciences United States | 62 | 60 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain | 220 | 139 |
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Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain | 247 | 156 |
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Genologica Medica Spain | 164 | 108 |
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Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
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Ciliopathy panel. NGS panel of 99 genes. Genologica Medica Spain | 152 | 97 |
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Joubert syndrome panel. 36-gene NGS panel. Genologica Medica Spain | 61 | 33 |
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Congenital liver fibrosis panel. NGS panel of 52 genes. Genologica Medica Spain | 89 | 50 |
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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.