Clinical and research tests for C2931832 - 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
Diabetes mellitus, permanent neonatal, PNDM Department of Clinical Genetics Odense University Hospital Denmark	1	1	D Deletion/duplication analysis M Methylation analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ABCC8 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ABCC8 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
KCNJ11 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
ABCC8 - MLPA Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis
ABCC8 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carrier Screening Ashkenazi Jewish Panel Ambry Genetics United States	51	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Monogenic Diabetes Panel Invitae United States	59	28	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 - Expanded 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
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hyperinsulinemic hypoglycemia, familial, 1, 256450, Autosomal recessive, Autosomal dominant; HHF1(Autosomal dominant hyperinsulinism due to SUR1 deficiency) (ABCC8 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
Hyperinsulinemic hypoglycemia, familial, 1, 256450, Autosomal recessive, Autosomal dominant; HHF1(Autosomal dominant hyperinsulinism due to SUR1 deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hyperinsulinemic hypoglycemia, familial, 1, 256450, Autosomal recessive, Autosomal dominant; HHF1(Autosomal dominant hyperinsulinism due to SUR1 deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hyperinsulinemic hypoglycemia, familial, 1, 256450, Autosomal recessive, Autosomal dominant; HHF1(Autosomal dominant hyperinsulinism due to SUR1 deficiency) (ABCC8 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 Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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