Clinical and research tests for 610549 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (Insulin-resistance syndrome type A) (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
Prostate cancer 1 (sequence analysis of RNASEL gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Maturity-onset Diabetes of the Young Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	14	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Type A insulin resistant diabetes with Acanthosis Nigricans testing (INSR) Genetic Services Laboratory University of Chicago United States	1	1	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
Invitae Hypoglycemia Panel Invitae 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
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
Diabetes mellitus: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	10	10	C Sequence analysis of the entire coding region
Hyperinsulinism Asper Biogene Asper Biogene LLC Estonia	31	12	C Sequence analysis of the entire coding region
INSR Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
INSR Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
Hyperinsulinism panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	11	13	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	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	472	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.