Clinical and research tests for 64805 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
P2RY12 Gene Bleeding disorder, platelet-type 8 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
P2RY12 - 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
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	754	562	D Deletion/duplication analysis
Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel Invitae United States	70	50	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bleeding disorder, platelet-type, 8, 609821, Autosomal recessive (P2Y12 defect) (P2RY12 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
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
ADP Receptor Deficiency via the P2RY12 Gene PreventionGenetics, part of Exact Sciences United States	1	1	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
Inherited Platelet Function Disorder Panel PreventionGenetics, part of Exact Sciences United States	23	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hematology Comprehensive Panel CGC Genetics Unilabs Portugal	1	291	C Sequence analysis of the entire coding region
Bleeding Disorders Panel CGC Genetics Unilabs Portugal	1	121	C Sequence analysis of the entire coding region
Platelet ADP receptor deficiency (deletion/duplication analysis of P2RY12 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Coagulation Disorders Panel Mendelics Brazil	1	51	C Sequence analysis of the entire coding region
Platelet function disorder panel. NGS panel of 21 genes. Genologica Medica Spain	23	21	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.