Clinical and research tests for 615888 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Bleeding disorder, platelet-type, 18, 615888, Autosomal recessive; BDPLT18 (Bleeding disorder due to CalDAG-GEFI deficiency) (RASGRP2 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
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
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
Platelet bleeding disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Platelet bleeding disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Platelet bleeding disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	34	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
Comprehensive Bleeding Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	80	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RASGRP2 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
RASGRP2 - Genetic Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	1	1	D Deletion/duplication analysis 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
Bleeding disorder (platelet-type): Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	23	20	C Sequence analysis of the entire coding region
Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States	146	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RASGRP2 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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.