Clinical and research tests for C1851413 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	109	99	X Mutation scanning of select exons
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	156	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EXT2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Multiple exostoses NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple exostoses 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
Multiple exostoses 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
Exostoses, multiple, type 2, 133701, Autosomal dominant (Multiple osteochondromas) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Exostoses, multiple, type 2, 133701, Autosomal dominant (Multiple osteochondromas) (EXT2 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
Pediatric Cancer Panel PreventionGenetics, part of Exact Sciences United States	78	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple exostoses 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
Multiple exostoses 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
Multiple exostoses NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Disorders of Glycosylation Panel Invitae United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cancer Panel PreventionGenetics, part of Exact Sciences United States	122	117	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Multiple Osteochondromas (HMO) via the EXT2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Multiple Osteochondromas (HMO) Panel PreventionGenetics, part of Exact Sciences United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Multiple Exostoses Panel GeneDx United States	4	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Panel of exostoses and related disorders. Panel NGS genes: EXT1, EXT2, PTPN11. Genologica Medica Spain	8	3	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.