Clinical and research tests for C0220687 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	234	240	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia de Lange syndrome Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	10	10	C Sequence analysis of the entire coding region
ANKRD11 Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KBG Syndrome (ANKRD11 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Coffin-Siris Syndrome NGS Panel Fulgent Genetics United States	82	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Reference Laboratory Genetics Spain	85	77	C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Athena Diagnostics United States	30	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	233	234	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Coffin-Siris Syndrome NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	22	22	C Sequence analysis of the entire coding region
KBG SYNDROME Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
KBG Syndrome , Sequencing ANKRD11 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Invitae KBG Syndrome Test Invitae United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	143	135	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia de Lange Syndrome Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	C Sequence analysis of the entire coding region
Cornelia de Lange and Related Disorders Panel Genetic Services Laboratory University of Chicago United States	12	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia de Lange Syndrome Asper Biogene Asper Biogene LLC Estonia	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy/Seizure NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	158	165	C Sequence analysis of the entire coding region
ANKRD11 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 43

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.