Clinical and research tests for C1853296 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Spondylocostal Dysostosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	7	8	D Deletion/duplication analysis
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication 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
Spondylocostal dysostosis 3, autosomal recessive, 609813; SCDO3 (Autosomal recessive spondylocostal dysostosis) (LFNG 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
Spondylocostal dysostosis 3, autosomal recessive, 609813; SCDO3 (Autosomal recessive spondylocostal dysostosis) (LFNG 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
Spondylocostal dysostosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	6	6	C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylocostal dysostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylocostal dysostosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spondylocostal Dysostosis via the LFNG Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylocostal Dysostosis Panel PreventionGenetics, part of Exact Sciences United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
LFNG Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Spondylocostal Dysostosis, Autosomal Recessive: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	6	6	C Sequence analysis of the entire coding region
SPONDYLOCOSTAL DYSOSTOSIS (SYNDROME DE JARCHO-LEVIN) Laboratorio de Genetica Clinica SL Spain	5	5	C Sequence analysis of the entire coding region
Autosomal recessive spondylocostal dysostosis type 3 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Autosomal recessive spondylocostal dysostosis type 3 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
LFNG Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spondylocostal Dysostosis NGS Panel Fulgent Genetics United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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