Clinical and research tests for 613112 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112, Autosomal dominant (Autosomal dominant macrothrombocytopenia) (TUBB1 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
Multiple sulfatase deficiency, BS Mayo Clinic Laboratories Mayo Clinic United States	1	2	A Analyte
PlateletGenex Thrombocytopenia Panel (26 genes) (2 Day STAT TAT) Machaon Diagnostics United States	22	26	C Sequence analysis of the entire coding region
TUBB1 - 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
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
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
Bleeding Disorders Panel PreventionGenetics, part of Exact Sciences United States	78	79	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia panel. 34-gene NGS panel. Genologica Medica Spain	53	34	C Sequence analysis of the entire coding region
Bleeding disorder / coagulopathy panel. NGS panel of 62 genes. Genologica Medica Spain	96	62	C Sequence analysis of the entire coding region
TUBB1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
TUBB1 - Genetic Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thrombocytopenia Genetic Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States	20	26	C Sequence analysis of the entire coding region
Comprehensive Platelet Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	60	63	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Autosomal Dominant Thrombocytopenia Panel Versiti Diagnostic Laboratories Versiti, Inc United States	22	22	D Deletion/duplication analysis S Mutation scanning of the entire coding region

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