Clinical and research tests for C2750737 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 89

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Diarrhea 5, with tufting enteropathy, congenital, 613217, Autosomal recessive; DIAR5 (Intestinal epithelial dysplasia) (EPCAM 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
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Custom Panel (Gastrointestinal) PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	147	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for ProstateNext® (+RNAinsight®) Ambry Genetics United States	40	11	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for ColoNext® (+RNAinsight®) Ambry Genetics United States	48	10	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for PancNext® plus Pancreatitis (+RNAinsight®) Ambry Genetics United States	41	10	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for PancNext® (+RNAinsight®) Ambry Genetics United States	41	10	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for RenalNext® (+RNAinsight®) Ambry Genetics United States	57	7	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
PancNext® plus Pancreatitis Ambry Genetics United States	41	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RenalNext® Ambry Genetics United States	57	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PancNext® Ambry Genetics United States	41	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ProstateNext® Ambry Genetics United States	40	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MSH2 gene sequence and MSH2 and EPCAM deletion/duplication and MSH2 Inversion Ambry Genetics United States	5	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HNPCC/Lynch Syndrome Panel Ambry Genetics United States	11	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cancer® Ambry Genetics United States	147	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ColoNext® Ambry Genetics United States	48	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CancerNext® Ambry Genetics United States	80	34	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.