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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Polycystic kidney disease type 5 (sequence analysis of DZIP1L) CGC Genetics Unilabs Portugal | 1 | 1 |
|
CNPY3 - 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 | 734 | 744 |
|
Genetic Services Laboratory University of Chicago United States | 47 | 125 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Early Infantile Epileptic Encephalopathy Panel PreventionGenetics, part of Exact Sciences United States | 144 | 124 |
|
Early Infantile Epileptic Encephalopathy Panel Genetic Services Laboratory University of Chicago United States | 47 | 125 |
|
Baylor Genetics United States | 1 | 397 |
|
CGC Genetics Unilabs Portugal | 1 | 759 |
|
Epileptic encephalopathy, early infantile 60 (sequence analysis of CNPY3) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 240 |
|
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 139 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 696 |
|
Developmental and epileptic encephalopathy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 91 | 90 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Early Infantile Epileptic Encephalopathy NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 114 | 86 |
|
GeneDx United States | 2 | 2592 |
|
GeneDx United States | 1 | 1501 |
|
Epileptic encephalopathy, early infantile: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 76 | 76 |
|
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.