Clinical and research tests for 262190 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
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
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (INSR 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
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	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
Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain	73	50	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	356	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rabson-Mendenhall Syndrome (INSR Single Gene Test) Fulgent Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Type A Insulin Resistance Syndrome (INSR Single Gene Test) Fulgent Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Donohue Syndrome (INSR Single Gene Test) Fulgent Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	473	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypoglycemia NGS Panel Fulgent Genetics United States	71	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RABSON-MENDENHALL SYNDROME Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
INSR Single Gene Fulgent Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MODY Neonatal Diabetes NGS Panel Fulgent Genetics United States	56	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	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.