Clinical and research tests for C1864902 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hyperinsulinism Panel Genetic Services Laboratory University of Chicago United States	13	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC16A1 Department of Clinical Genetics Odense University Hospital Denmark	1	1	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
SLC16A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	202	128	D Deletion/duplication analysis
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 Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Hyperinsulinemic hypoglycemia, familial, 7, 610021, Autosomal dominant; HHF7 (Exercise-induced hyperinsulinism) (SLC16A1 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, 7, 610021, Autosomal dominant; HHF7 (Exercise-induced hyperinsulinism) (SLC16A1 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
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
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
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
Comprehensive panel of monogenic diabetes. 28-gene NGS panel. Genologica Medica Spain	60	28	C Sequence analysis of the entire coding region
Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain	73	50	C Sequence analysis of the entire coding region
Hyperinsulinism Asper Biogene Asper Biogene LLC Estonia	30	11	C Sequence analysis of the entire coding region
Congenital Hyperinsulinism Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	19	11	C Sequence analysis of the entire coding region
SLC16A1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
SLC16A1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
Hyperinsulinemia hypoglycemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	7	C Sequence analysis of the entire coding region

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