Clinical and research tests for C3150703 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Facial Dysostosis Panel Genetic Services Laboratory University of Chicago United States	14	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ALX4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	44	28	D Deletion/duplication analysis
ALX4-Related Disorders via the ALX4 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia 2, 613451, Autosomal recessive; FND2 (Frontonasal dysplasia with alopecia and genital anomaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Frontonasal dysplasia 2, 613451, Autosomal recessive; FND2 (Frontonasal dysplasia with alopecia and genital anomaly) (ALX4 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
Frontonasal dysplasia 2, 613451, Autosomal recessive; FND2 (Frontonasal dysplasia with alopecia and genital anomaly) (ALX4 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
Frontonasal dysplasia 2, 613451, Autosomal recessive; FND2 (Frontonasal dysplasia with alopecia and genital anomaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
CraniofacialZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	110	45	C Sequence analysis of the entire coding region
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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