Clinical and research tests for C4551902 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Invitae United States	44	28	D Deletion/duplication analysis
VACTERL Association and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	123	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States	116	65	D Deletion/duplication analysis 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
Craniosynostosis 1, 123100, Autosomal dominant; CRS1 (Isolated oxycephaly) (TWIST1 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
Craniosynostosis 1, 123100, Autosomal dominant; CRS1 (Isolated oxycephaly) (TWIST1 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
Craniosynostosis 1, 123100, Autosomal dominant; CRS1 (Isolated oxycephaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Craniosynostosis 1, 123100, Autosomal dominant; CRS1 (Isolated oxycephaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CraniofacialZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	45	C Sequence analysis of the entire coding region
Craniosynostosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	26	C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PGmax™ - Skeletal Disorders and Joint Problems Panel PreventionGenetics, part of Exact Sciences United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Saethre-Chotzen Syndrome via the TWIST1 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
Facial Dysostosis Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	33	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	19	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
TWIST1 Institute for Human Genetics University Medical Center Freiburg Germany	4	1	C Sequence analysis of the entire coding region
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.