Clinical and research tests for 55209 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SETD5 Gene Mental retardation, autosomal dominant type 23 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
SETD5 - 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
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
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Intellectual Disability exome Genetic Services Laboratory University of Chicago United States	6	216	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
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mental retardation, autosomal dominant 23, 615761, Autosomal dominant; MRD23 (Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency) (SETD5 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Mental retardation, autosomal dominant 23, 615761, Autosomal dominant; MRD23 (Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency) (SETD5 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	43	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Cornelia de Lange Syndrome and Related Disorders Panel Invitae United States	44	31	D Deletion/duplication analysis
Non-Specific Intellectual Disability Panel Genetic Services Laboratory University of Chicago United States	6	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SETD5 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	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.