Clinical and research tests for C0266463 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Brain Malformation Panel PreventionGenetics, part of Exact Sciences United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States	37	131	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cortical Malformations and Epilepsy Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	35	39	C Sequence analysis of the entire coding region
Comprehensive Brain Malformations Panel GeneDx United States	19	103	D Deletion/duplication analysis E Sequence analysis of select exons
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral Cortical Malformation NGS Panel Fulgent Genetics United States	210	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LISSENCEPHALY Laboratorio de Genetica Clinica SL Spain	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lissencephaly Panel Blueprint Genetics Finland	1	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Brain Malformation Panel Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	36	106	C Sequence analysis of the entire coding region
TUBA3E Single Gene Fulgent Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KIF2A Single Gene Fulgent Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KATNB1 Single Gene Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MZT2B Single Gene Fulgent Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CDK5 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lissencephaly Panel GeneDx United States	2	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronal Migration Disorders Panel CeGaT GmbH Germany	32	50	C Sequence analysis of the entire coding region
Neuronal Migration Disorders Panel CeGaT GmbH Germany	32	50	C Sequence analysis of the entire coding region
Somatic Overgrowth Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	86	49	C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	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.