Clinical and research tests for C0265344 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
INSR 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Leprechaunism, 246200, Autosomal recessive (Leprechaunism) (DONOHUE SYNDROME) (INSR 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
Leprechaunism, 246200, Autosomal recessive (Leprechaunism) (DONOHUE SYNDROME) (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
Donohue syndrome Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital New Zealand	1	1	T Targeted variant analysis
INSR Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
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
DONOHUE SYNDROME (LEPRECHAUNISM) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region

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