Clinical and research tests for C1857775 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 29

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GLIS3 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
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GLIS3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
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
Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199, Autosomal recessive; NDH (Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome) (GLIS3 gene) (Sequence Analysis-All Coding Exons) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199, Autosomal recessive; NDH (Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome) (GLIS3 gene) (Sequence Analysis-All Coding Exons) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Polycystic kidney disease and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	29	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polycystic kidney disease and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	29	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polycystic kidney disease and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	28	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Hypothyroidism and Neonatal Diabetes Mellitus via the GLIS3 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
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel PreventionGenetics, part of Exact Sciences United States	32	26	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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 29

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.