Bleeding Disorder, Platelet-type, 8; Bdplt8

Description

P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.

Clinical Features

Phenotypes and symptoms related to Bleeding Disorder, Platelet-type, 8; Bdplt8

  • Bruising susceptibility
  • Abnormal bleeding
  • Epistaxis
  • Hemoptysis
  • Retinal hemorrhage
  • Persistent bleeding after trauma
  • Prolonged bleeding after surgery
  • Impaired ADP-induced platelet aggregation
  • Subretinal hemorrhage

Incidence and onset information

Not enough data available about incidence and published cases.


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Bleeding Disorder, Platelet-type, 8; Bdplt8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MED12L.

By Fulgent Genetics Fulgent Genetics in United States.

MED12L
Specificity
100 %
Genes
34 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
34 %
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
4 %
Genes
67 %
P2RY12 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

P2RY12
Specificity
100 %
Genes
34 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
4 %
Genes
67 %
Platelet Function Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GP1BA, ANO6, GP6, TBXA2R, P2RX1, P2RY12, TBXAS1, PLAU, ITGA2, CD36, ITGB3, ITGA2B , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
67 %
ADP Receptor Deficiency via the P2RY12 Gene.

By PreventionGenetics PreventionGenetics in United States.

P2RY12
Specificity
100 %
Genes
34 %
Platelet bleeding disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
Platelet bleeding disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
Platelet bleeding disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
Bleeding disorder, platelet-type 8.

By Centogene AG - the Rare Disease Company in Germany.

P2RY12
Specificity
100 %
Genes
34 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
67 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
67 %
P2RY12.

By Fulgent Genetics Fulgent Genetics in United States.

P2RY12
Specificity
100 %
Genes
34 %
Platelet Function Disorder Panel.

By Blueprint Genetics in Finland.

RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, THPO, GP1BA, TBXA2R, P2RY12, NBEAL2, ITGB3, ITGA2B, GP1BB, WIPF1, GP9 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
34 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
34 %
Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GP1BA, ANO6, GP6, TBXA2R, P2RY12, ITGB3, ITGA2B, GP1BB, GP9
Specificity
6 %
Genes
34 %
P2RX1.

By Fulgent Genetics Fulgent Genetics in United States.

P2RX1
Specificity
100 %
Genes
34 %

Alternate names

Bleeding Disorder, Platelet-type, 8; Bdplt8 Is also known as bleeding disorder due to p2ry12 defect;adp platelet receptor p2y12 defect.



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