Factor Xiii, B Subunit, Deficiency Of

Description

Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999).{2,3:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.

Clinical Features

Phenotypes and symptoms related to Factor Xiii, B Subunit, Deficiency Of

  • Nevus
  • Bruising susceptibility
  • Abnormal bleeding
  • Prolonged bleeding after surgery
  • Reduced factor XIII activity
  • Abnormal umbilical stump bleeding

Incidence and onset information

Not enough data available about incidence and published cases.


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Factor Xiii, B Subunit, Deficiency Of Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Factor XIII Deficiency.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

F13A1, F13B
Specificity
50 %
Genes
100 %
F13B. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

F13B
Specificity
100 %
Genes
100 %
Factor XIII deficiency (sequence analysis of F13B gene).

By CGC Genetics in Portugal.

F13B
Specificity
100 %
Genes
100 %
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
2 %
Genes
100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, SERPINE1, VKORC1, F7, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1
Specificity
5 %
Genes
100 %
Congenital Factor XIII Deficiency via F13B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F13B
Specificity
100 %
Genes
100 %
Factor XIIIB deficiency.

By Centogene AG - the Rare Disease Company in Germany.

F13B
Specificity
100 %
Genes
100 %
F13A1 & F13B gene analysis.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust in United Kingdom.

F13A1, F13B
Specificity
50 %
Genes
100 %
F13B.

By Fulgent Genetics Fulgent Genetics in United States.

F13B
Specificity
100 %
Genes
100 %
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
100 %
Factor XIII, deficiency.

By Bioarray in Spain.

F13B
Specificity
100 %
Genes
100 %
FACTOR XIII DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

F13A1, F13B
Specificity
50 %
Genes
100 %
Factor XIIIB Deficiency , Sequencing F13B Gene.

By Reference Laboratory Genetics in Spain.

F13B
Specificity
100 %
Genes
100 %
Thrombophilia due to Factor XIII Deficiency , Massive Sequencing (NGS) F13A1, F13B Genes.

By Reference Laboratory Genetics in Spain.

F13A1, F13B
Specificity
50 %
Genes
100 %


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