Clinical and research tests for 2645 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First < Prev

Page 2 of 7

Results: 21 to 40 of 137

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MODY and Neonatal Diabetes Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	17	23	C Sequence analysis of the entire coding region
Invitae Monogenic Diabetes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	59	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Diabetes Panel PreventionGenetics, part of Exact Sciences United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoglycemia Panel PreventionGenetics, part of Exact Sciences United States	217	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hyperinsulinemic hypoglycemia, familial, 3, 602485, Autosomal dominant; HHF3 (Hyperinsulinism due to glucokinase deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hyperinsulinemic hypoglycemia, familial, 3, 602485, Autosomal dominant; HHF3 (Hyperinsulinism due to glucokinase deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hyperinsulinemic hypoglycemia, familial, 3, 602485, Autosomal dominant; HHF3 (Hyperinsulinism due to glucokinase deficiency) (GCK 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
Hyperinsulinemic hypoglycemia, familial, 3, 602485, Autosomal dominant; HHF3 (Hyperinsulinism due to glucokinase deficiency) (GCK 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
MODY, type II, 125851, Autosomal dominant; MODY2 (MODY) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
MODY, type II, 125851, Autosomal dominant; MODY2 (MODY) (GCK 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
Diabetes mellitus, noninsulin-dependent, late onset, 125853, Autosomal dominant (GCK 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
Diabetes mellitus, noninsulin-dependent, late onset, 125853, Autosomal dominant (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Diabetes mellitus, permanent neonatal, 606176, Autosomal dominant (Permanent neonatal diabetes mellitus) (GCK 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
Diabetes mellitus, permanent neonatal, 606176, Autosomal dominant (Permanent neonatal diabetes mellitus) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
Maturity-Onset Diabetes of the Young (MODY) Panel Ambry Genetics United States	14	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Level 2: Expanded Congenital Hyperinsulinism Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	7	6	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Level 1: Congenital Hyperinsulinisim Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	5	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Hyperinsulinism Panel PreventionGenetics, part of Exact Sciences United States	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Maturity Onset Diabetes of the Young (MODY) Panel PreventionGenetics, part of Exact Sciences United States	20	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

<< First < Prev

Page 2 of 7

Results: 21 to 40 of 137

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.