Clinical and research tests for 602485 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Hyperinsulinism Panel Genetic Services Laboratory University of Chicago United States	13	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism Genetic Services Laboratory University of Chicago United States	2	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GCK Department of Clinical Genetics Odense University Hospital Denmark	2	1	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
GCK - 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 Hypoglycemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	173	119	D Deletion/duplication analysis 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	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Hyperglycemia and Hypoglycemia via the GCK Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
MODY type diabetes panel. NGS panel of 13 genes. Genologica Medica Spain	29	13	C Sequence analysis of the entire coding region
Comprehensive panel of monogenic diabetes. 28-gene NGS panel. Genologica Medica Spain	60	28	C Sequence analysis of the entire coding region

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