Clinical and research tests for 50945 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 20 of 29

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TBX22 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft lip, cleft palate and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft lip, cleft palate and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft lip, cleft palate and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft palate with ankyloglossia, 303400, X-linked; CPX (X-linked cleft palate and ankyloglossia) (TBX22 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
Cleft palate with ankyloglossia, 303400, X-linked; CPX (X-linked cleft palate and ankyloglossia) (TBX22 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
Abruzzo-Erickson syndrome, 302905, X-linked; ABERS (Abruzzo-Erickson syndrome) (TBX22 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
Abruzzo-Erickson syndrome, 302905, X-linked; ABERS (Abruzzo-Erickson syndrome) (TBX22 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
X-linked Cleft Palate via the TBX22 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
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft lip, cleft palate and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	19	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft lip, cleft palate and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	19	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft lip, cleft palate and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	19	17	C Sequence analysis of the entire coding region T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	231	C Sequence analysis of the entire coding region
Cleft lip panel, cleft palate and associated syndromes. 16-gene NGS panel. Genologica Medica Spain	49	16	C Sequence analysis of the entire coding region
Cleft palate: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Abruzzo-Erickson syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region

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