Clinical and research tests for 3339 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
HSPG2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Schwartz-Jampel syndrome, type 1, 255800, Autosomal recessive; SJS1 (Schwartz-Jampel syndrome) (HSPG2 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
Schwartz-Jampel syndrome, type 1, 255800, Autosomal recessive; SJS1 (Schwartz-Jampel syndrome) (HSPG2 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
Dyssegmental dysplasia, Silverman-Handmaker type, 224410, Autosomal recessive; DDSH (Dyssegmental dysplasia, Silverman-Handmaker type) (HSPG2 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
Dyssegmental dysplasia, Silverman-Handmaker type, 224410, Autosomal recessive; DDSH (Dyssegmental dysplasia, Silverman-Handmaker type) (HSPG2 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	52	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal dysplasia and skeletal ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	52	53	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	52	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyssegmental dysplasia, Silverman-Handmaker type NGS test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Schwartz-Jampel syndrome, type 1 Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.