Clinical and research tests for C1333600 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 53

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Lung Cancer Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
Li-Fraumeni Syndrome Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
MEN1 Syndrome Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	2	S Mutation scanning of the entire coding region
Multiple Endocrine Neoplasia Type 2 Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
Neurofibromatosis, type 1 Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	2	S Mutation scanning of the entire coding region
Nijmegen Breakage Syndrome Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
Peutz-Jeghers Syndrome Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
PTEN Hamartoma Tumour Syndrome Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
Rare Polyposis Genes Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	2	S Mutation scanning of the entire coding region
Retinoblastoma Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
Rhabdoid Predisposition Syndrome Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	2	S Mutation scanning of the entire coding region
Schwannomatosis Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	3	S Mutation scanning of the entire coding region
Sessile Serrated Polyposis Cancer Syndrome Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
Tuberous Sclerosis Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	2	S Mutation scanning of the entire coding region
Von Hippel-Lindau Syndrome Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	1	S Mutation scanning of the entire coding region
Hereditary Endometrial Cancer (10) BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	10	S Mutation scanning of the entire coding region
Hereditary Gastrointestinal Cancer (Lynch Syndrome, Gastric, Pancreas, Polyposis, 31) APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RP Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	31	S Mutation scanning of the entire coding region
Hereditary Breast/Ovarian/Prostate/Gastrointestinal Cancer (36) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, R Diagnostic Medical Genetics Mount Sinai Hospital, Sinai Health System Canada	1	36	S Mutation scanning 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.