Clinical and research tests for 1719 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	107	96	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
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839, Autosomal recessive (Constitutional megaloblastic anemia with severe neurologic disease) (DHFR 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
Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839, Autosomal recessive (Constitutional megaloblastic anemia with severe neurologic disease) (DHFR 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
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
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel PreventionGenetics, part of Exact Sciences United States	34	39	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurotransmitter Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	52	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epilepsy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral Palsy Spectrum Disorders Panel Baylor Genetics United States	1	419	C Sequence analysis of the entire coding region
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1307	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.