Clinical and research tests for C0265210 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Cancer Screening - Nervous System & Endocrine Cancer Panel (44 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	52	44	X Mutation scanning of select exons
Hereditary Cancer Screening - Breast & Gynecological Cancer Panel (33 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	37	33	X Mutation scanning of select exons
Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	109	99	X Mutation scanning of select exons
Weaver syndrome testing (EZH2) Genetic Services Laboratory University of Chicago United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
Myeloid Tumor Panel Centogene AG - the Rare Disease Company Germany	74	34	C Sequence analysis of the entire coding region
EZH2 - 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
Invitae Overgrowth Syndromes Panel Invitae United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Weaver syndrome, 277590, Autosomal dominant; WVS (Weaver syndrome) (EZH2 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
Weaver syndrome, 277590, Autosomal dominant; WVS (Weaver syndrome) (EZH2 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
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Sotos syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	5	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Sotos syndrome and related disorders Deletion/Duplication panel HNL Genomics Connective Tissue Gene Tests United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sotos syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Weaver and Cohen-Gibson syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Weaver and Cohen-Gibson syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	2	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.