Clinical and research tests for C1833104 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 4

Results: 1 to 20 of 79

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
GCK Gene Sequencing GENETIX Centro de Investigación en Genética Humana y Reproductiva Colombia	5	1	C Sequence analysis of the entire coding region
INS 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
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
Hypoglycemia Panel - Expanded PreventionGenetics United States	126	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Diabetes mellitus, permanent neonatal, 606176, Autosomal dominant (DEND syndrome) (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
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, permanent neonatal, 606176, Autosomal dominant (DEND syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Diabetes mellitus, permanent neonatal, 606176, Autosomal dominant (DEND syndrome) (INS 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, permanent neonatal, 606176, Autosomal dominant (Permanent neonatal diabetes mellitus) (GCK 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, permanent neonatal, 606176, Autosomal dominant (Permanent neonatal diabetes mellitus) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
KCNJ11 - Diabetes mellitus Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	4	1	C Sequence analysis of the entire coding region
ABCC8 - Diabetes mellitus Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	3	1	C Sequence analysis of the entire coding region
Maturity-Onset Diabetes of the Young (MODY) Panel Ambry Genetics United States	14	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the INS Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Hyperglycemia and Hypoglycemia via the GCK Gene PreventionGenetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Congenital Hyperinsulinism Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	19	11	C Sequence analysis of the entire coding region
Maturity-Onset Diabetes of the Young (MODY) Panel GeneDx United States	2	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 4

Results: 1 to 20 of 79

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.