Clinical and research tests for C3888239 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Multiple Endoctine Neoplasia Type 2 (RET) Molecular Genetics Laboratory London Health Sciences Centre Canada	5	1	D Deletion/duplication analysis E Sequence analysis of select exons 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
RET - MLPA Centogene US, LLC - The Rare Disease Company United States	5	1	D Deletion/duplication analysis
RET - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RET - MLPA Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis
RET - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel Invitae United States	67	41	D Deletion/duplication analysis
Invitae Hypopigmentation Panel Invitae United States	83	46	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics United States	342	156	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hirschsprung disease, susceptibility to, 1, 142623, Autosomal dominant; HSCR1 (Hirschsprung disease) (RET gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Hirschsprung disease, susceptibility to, 1, 142623, Autosomal dominant; HSCR1 (Hirschsprung disease) (Prenatal) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Hirschsprung disease, susceptibility to, 1, 142623, Autosomal dominant; HSCR1 (Hirschsprung disease) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Hirschsprung disease, susceptibility to, 1, 142623, Autosomal dominant; HSCR1 (Hirschsprung disease) (RET gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	147	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for PGLNext® (+RNAinsight®) Ambry Genetics United States	26	1	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CancerNext-Expanded® (+RNAinsight®) Ambry Genetics United States	141	18	D Deletion/duplication analysis R RNA 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
RET gene sequence Ambry Genetics United States	6	1	C Sequence analysis of the entire coding region

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