Clinical and research tests for 606672 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
LIG4 Gene LIG4 syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GP1BA Gene von Willebrand disease platelet type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GP1BA Gene Bernard Soulier syndrome type A1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GP1BA Gene Bernard Soulier syndrome type A2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
Genetic Study of Hereditary Thrombophilia (11 genes, 15 variants) HeartGenetics, Genetics and Biotechnology, SA Portugal	1	11	E Sequence analysis of select exons T Targeted variant analysis
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
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
Bernard-Soulier syndrome, type A2 (dominant), 153670, Autosomal dominant; BSSA2 (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
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
von Willebrand disease, platelet-type, 177820, Autosomal dominant; VWDP (Pseudo-von Willebrand disease) (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
Nonarteritic anterior ischemic optic neuropathy, susceptibility to, 258660, 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
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

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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.