Clinical and research tests for C0023374 - Genetic Testing Registry (GTR)

Page 2 of 4

Results: 21 to 40 of 61

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
HPRT1 - Lesch–Nyhan syndrome Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	2	1	C Sequence analysis of the entire coding region
Invitae Purine Metabolism Disorders Panel Invitae United States	26	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dystonia Exome Genetic Services Laboratory University of Chicago United States	93	170	C Sequence analysis of the entire coding region
Nephrolithiasis and Nephrocalcinosis Panel PreventionGenetics, part of Exact Sciences United States	33	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
HPRT Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
HPRT Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	2	1	T Targeted variant analysis
HPRT Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Purine Panel - Urine Baylor Genetics United States	7	8	A Analyte
Hypoxanthine-Guanine Phosphoribosyltransferase Enzyme Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	E Enzyme assay
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	41	60	C Sequence analysis of the entire coding region
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Nephrolithiasis panel. 35-gene NGS panel. Genologica Medica Spain	60	35	C Sequence analysis of the entire coding region
X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain	143	99	C Sequence analysis of the entire coding region
Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	136	90	C Sequence analysis of the entire coding region
Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	210	139	C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 4

Next >Last >>

Results: 21 to 40 of 61

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.

Filters

Test type

Test purpose

Test method

Biochemical Genetics

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 21 to 40 of 61

Results: 21 to 40 of 61