Clinical and research tests for C1785148 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TP63 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TP63 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication 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
Invitae Limb and Digital Malformations Panel Invitae United States	367	178	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly and Syndactyly Panel PreventionGenetics United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Rapp-Hodgkin syndrome, 129400, Autosomal dominant; RHS (Rapp-Hodgkin syndrome) (TP63 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Rapp-Hodgkin syndrome, 129400, Autosomal dominant; RHS (Rapp-Hodgkin syndrome) (TP63 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Orofacial cleft 8, 129400, Autosomal dominant (Cleft lip/palate) (TP63 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Orofacial cleft 8, 129400, Autosomal dominant (Cleft lip/palate) (TP63 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Syndactyly Panel PreventionGenetics United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
Cleft Lip/Cleft Palate Panel PreventionGenetics United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Invitae United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Differences of Sex Development (DSD) Panel PreventionGenetics United States	149	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
TP63-Related Disorders via the TP63 Gene PreventionGenetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain	60	23	C Sequence analysis of the entire coding region

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