Clinical and research tests for C0795864 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RAI1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Monogenic Obesity Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Monogenic Obesity Panel PreventionGenetics, part of Exact Sciences United States	43	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RAI1 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region
Smith-Magenis and Potocki-Lupski syndromes via the RAI1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain	175	102	C Sequence analysis of the entire coding region
Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	136	90	C Sequence analysis of the entire coding region
Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	210	139	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.