Clinical and research tests for 604505 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
chr. 11p15 Gene Silver-Russell syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Comprehensive Skin Panel NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
TRIP11 Gene Achondrogenesis type 1A NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
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
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
Congenital Disorders of Glycosylation Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	141	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
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Achondrogenesis Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Achondrogenesis NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Achondrogenesis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Achondrogenesis, type IA, 200600, Autosomal recessive; ACG1A (Achondrogenesis) (TRIP11 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
Achondrogenesis, type IA, 200600, Autosomal recessive; ACG1A (Achondrogenesis) (TRIP11 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
Invitae Metabolic Non-Immune Fetal Hydrops Panel Labcorp Genetics (formerly Invitae) LabCorp United States	50	51	D Deletion/duplication analysis 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

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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.