Clinical and research tests for 138130 - 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
GLUD1 Gene Hyperinsulinemic hypoglycemia type 6 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Urea Cycle Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	13	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GLUD1 Department of Clinical Genetics Odense University Hospital Denmark	1	1	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States	1	335	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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 Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Urea Cycle Disorders Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fatty Acid Oxidation Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	2	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperammonemia Panel PreventionGenetics, part of Exact Sciences United States	66	63	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
Hyperinsulinism-hyperammonemia syndrome, 606762, Autosomal dominant; HHF6 (Hyperinsulinism-hyperammonemia syndrome) (GLUD1 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-hyperammonemia syndrome, 606762, Autosomal dominant; HHF6 (Hyperinsulinism-hyperammonemia syndrome) (GLUD1 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
Invitae Hyperammonemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	75	72	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.