Clinical and research tests for 600024 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HBA2 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	4	1	C Sequence analysis of the entire coding region
Rhizomelic Chondrodysplasia Punctata Panel Genetic Services Laboratory University of Chicago United States	3	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LBR Gene Greenberg skeletal dysplasia NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
LBR Gene Pelger-Huet anomaly NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
LBR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis 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
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
Chondrodysplasia punctata and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia punctata and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia punctata and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sterol Disorders Panel PreventionGenetics, part of Exact Sciences United States	18	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Greenberg skeletal dysplasia, 215140, Autosomal recessive; GRBGD (Greenberg dysplasia) (LBR 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
Greenberg skeletal dysplasia, 215140, Autosomal recessive; GRBGD (Greenberg dysplasia) (LBR 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
Reynolds syndrome, 613471, Autosomal dominant (Reynolds syndrome) (LBR 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
Reynolds syndrome, 613471, Autosomal dominant (Reynolds syndrome) (LBR 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

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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.