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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HPRT1 Gene Sequencing GENETIX Centro de Investigación en Genética Humana y Reproductiva Colombia	1	1	C Sequence analysis of the entire coding region
Renal Stone/Electrolyte Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	82	71	D Deletion/duplication analysis 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
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Nephrolithiasis Panel Invitae United States	66	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lesch-Nyhan syndrome, 300322, X-linked recessive; LNS (Lesch-Nyhan syndrome) (HPRT1 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
Lesch-Nyhan syndrome, 300322, X-linked recessive; LNS (Lesch-Nyhan syndrome) (HPRT1 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 Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis 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
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 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 United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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