Clinical and research tests for C3150942 - 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 Invitae United States	7	8	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae 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 4, autosomal recessive, 613686, Autosomal recessive; SCDO4 (Autosomal recessive spondylocostal dysostosis) (HES7 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 4, autosomal recessive, 613686, Autosomal recessive; SCDO4 (Autosomal recessive spondylocostal dysostosis) (HES7 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
Spondylocostal Dysostosis via the HES7 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
HES7 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
HES7 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
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 , Panel Massive Sequencing (NGS) 5 Genes Reference Laboratory Genetics Spain	5	5	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 4 , Sequencing HES7 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Autosomal recessive spondylocostal dysostosis type 4 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Autosomal recessive spondylocostal dysostosis type 4 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Heterotaxy Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	156	114	C Sequence analysis of the entire coding region

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