Clinical and research tests for C2607929 - 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
Cardiology Sequencing- Arrhythmia Comprehensive Panel (134 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	88	134	X Mutation scanning of select exons
Cardiology Sequencing- Full Panel (174 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	122	174	X Mutation scanning of select exons
Carney complex Molecular Genetics Laboratory North York General Hospital Canada	1	1	C Sequence analysis of the entire coding region
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	155	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRKAR1A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Multi-Cancer + RNA Panel Labcorp Genetics (formerly Invitae) LabCorp United States	142	63	D Deletion/duplication analysis
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	44	28	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carney complex, type 1, 160980, Autosomal dominant; CNC1 (Carney complex) (PRKAR1A 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
Carney complex, type 1, 160980, Autosomal dominant; CNC1 (Carney complex) (PRKAR1A 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
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Labcorp Genetics (formerly Invitae) LabCorp United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pediatric Cancer Panel PreventionGenetics, part of Exact Sciences United States	77	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States	224	202	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Carney Complex (CNC) via the PRKAR1A Gene PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.