Clinical and research tests for C1858160 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	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
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Parietal foramina with cleidocranial dysplasia, 168550, Autosomal dominant; PFMCCD (Parietal foramina with cleidocranial dysplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Parietal foramina with cleidocranial dysplasia, 168550, Autosomal dominant; PFMCCD (Parietal foramina with cleidocranial dysplasia) (MSX2 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 2, 604757, Autosomal dominant; CRS2 (Craniosynostosis, Boston type) (MSX2 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 2, 604757, Autosomal dominant; CRS2 (Craniosynostosis, Boston type) (MSX2 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 2, 604757, Autosomal dominant; CRS2 (Craniosynostosis, Boston type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Craniosynostosis 2, 604757, Autosomal dominant; CRS2 (Craniosynostosis, Boston type) (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 Hospital United States	110	45	C Sequence analysis of the entire coding region
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
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
Craniosynostosis via the MSX2 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
MSX2 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Parietal foramina 1, Craniosynostosis type 2 (sequence analysis of MSX2 gene) CGC Genetics Unilabs Portugal	2	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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