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	C Sequence analysis of the entire coding region
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
CentoMetabolic MOx Centogene US, LLC - The Rare Disease Company United States	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene US, LLC - The Rare Disease Company United States	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene US, LLC - The Rare Disease Company United States	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene US, LLC - The Rare Disease Company United States	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene US, LLC - The Rare Disease Company United States	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 Cerebral Palsy Spectrum Disorders Panel Invitae United States	646	420	D Deletion/duplication analysis
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 Genetic Diagnosis and Research Centre 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 Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Lesch-Nyhan syndrome, 300322, X-linked recessive; LNS (Lesch-Nyhan syndrome) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis

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