Clinical and research tests for 231200 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Bernard-Soulier syndrome, type B, 231200, Autosomal recessive (Bernard-Soulier syndrome) (GP1BB 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
Bernard-Soulier syndrome, type C, 231200, Autosomal recessive; BSS (Bernard-Soulier syndrome) (GP9 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
Giant platelet disorder, isolated, 231200, Autosomal recessive (Bernard-Soulier syndrome) (GP1BB 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
Bernard-Soulier syndrome, type A1 (recessive), 231200, Autosomal recessive (Bernard-Soulier syndrome) (GP1BA 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
PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT) Machaon Diagnostics United States	26	31	C Sequence analysis of the entire coding region
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia BloodGenetics Spain	12	11	C Sequence analysis of the entire coding region
GP1BA - 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
GP9 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Blood Coagulation Panel Centogene AG - the Rare Disease Company Germany	110	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	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 Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	70	50	D Deletion/duplication analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	249	155	C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	266	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Platelet Function Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	40	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Thrombocytopenia Panel Versiti Diagnostic Laboratories Versiti, Inc United States	40	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thrombocytopenia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	32	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia Panel PreventionGenetics, part of Exact Sciences United States	13	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bernard-Soulier Syndrome Panel Versiti Diagnostic Laboratories Versiti, Inc United States	2	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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