Clinical and research tests for KCNJ11 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 155

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Hyperinsulinemic hypoglycemia, familial, 2, 601820, Autosomal recessive (Autosomal dominant hyperinsulinism due to Kir6.2 deficiency) (KCNJ11 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, 2, 601820, Autosomal recessive (Autosomal dominant hyperinsulinism due to Kir6.2 deficiency) (KCNJ11 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
Maturity-onset diabetes of the young, type 13, 616329, Autosomal dominant; MODY13 (MODY) (KCNJ11 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
Diabetes, permanent neonatal, with or without neurologic features, 606176, Autosomal dominant (KCNJ11 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
Diabetes mellitus, transient neonatal, 3, 610582, Autosomal dominant (Transient neonatal diabetes mellitus) (KCNJ11 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
Diabetes mellitus, type 2, susceptibility to, 125853, Autosomal dominant (KCNJ11 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KCNJ11-Related Familial Hyperinsulinism Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
KCNJ11 - Diabetes mellitus Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	4	1	C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
Level 2: Expanded Congenital Hyperinsulinism Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	7	6	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Level 1: Congenital Hyperinsulinisim Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	5	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Hyperinsulinism Panel PreventionGenetics, part of Exact Sciences United States	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Maturity Onset Diabetes of the Young (MODY) Panel PreventionGenetics, part of Exact Sciences United States	20	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neonatal Diabetes Mutation Analysis Genetic Services Laboratory University of Chicago United States	5	33	D Deletion/duplication analysis M Methylation analysis C Sequence analysis of the entire coding region
KCNJ11-Related Congenital Hyperinsulinism via the KCNJ11 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.