Clinical and research tests for C0950121 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Cancer Screening - Renal/Urinary Tract Cancer Panel (Including prostate and kidney cancer) - (39 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	40	39	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
FSGS/Nephrotic Syndrome Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	25	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TMA-Complete Genetic Panel 3.0 Machaon Diagnostics United States	6	24	E Sequence analysis of select exons
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCancer Centogene AG - the Rare Disease Company Germany	114	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	156	107	D Deletion/duplication analysis 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
Invitae Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel Invitae United States	81	57	D Deletion/duplication analysis
Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel Invitae United States	67	41	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Disorders of Sex Development Panel Invitae United States	88	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States	116	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Denys-Drash syndrome, 194080, Autosomal dominant, Somatic mutation; DDS (Denys-Drash syndrome) (WT1 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
Denys-Drash syndrome, 194080, Autosomal dominant, Somatic mutation; DDS (Denys-Drash syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Denys-Drash syndrome, 194080, Autosomal dominant, Somatic mutation; DDS (Denys-Drash syndrome) (WT1 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
Denys-Drash syndrome, 194080, Autosomal dominant, Somatic mutation; DDS (Denys-Drash syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Wilms Tumor Panel PreventionGenetics, part of Exact Sciences United States	48	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Invitae United States	160	62	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.