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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Epileptic encephalopathy panel. 128-gene NGS panel. Genologica Medica Spain | 197 | 128 |
|
Non-syndromic hearing loss panel. 95-gene NGS panel. Genologica Medica Spain | 146 | 94 |
|
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain | 409 | 283 |
|
Neuronal ceroid lipofuscinosis and progressive myoclonic epilepsy panel. 31-gene NGS panel. Genologica Medica Spain | 46 | 31 |
|
Developmental and epileptic encephalopathy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 88 | 86 |
|
Early Infantile Epileptic Encephalopathy NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 114 | 86 |
|
CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 35 | 17 |
|
CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 132 | 83 |
|
Epileptic encephalopathy, early infantile: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 76 | 76 |
|
TBC1D24-Related Disorders: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 4 | 1 |
|
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Reference Laboratory Genetics Spain | 60 | 44 |
|
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Reference Laboratory Genetics Spain | 28 | 28 |
|
Early Infantile Epileptic Encephalopathy Type 16, Sequencing TBC1D24 Gene Reference Laboratory Genetics Spain | 1 | 1 |
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 143 | 135 |
|
Asper Biogene Asper Biogene LLC Estonia | 210 | 204 |
|
Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 198 | 157 |
|
Epilepsy and X-linked Mental Retardation with Seizures Panel CeGaT GmbH Germany | 21 | 25 |
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Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands | 22 | 10 |
|
Epileptic syndromes with epilepsy and intellectual disability panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands | 74 | 50 |
|
Benign neonatal/infantile convulsions panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands | 11 | 5 |
|
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.