- Genetic tests
- Trombosis - Hemostasis (gene panel)
Trombosis - Hemostasis (gene panel)
This test requires filling out a specific Application Form available in the "document" field
Full name: |
Trombosis - Hemostasis (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Accreditation (ISO 15189): |
2021-07-08 / 2026-02-02
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Turnaround time (maximum): |
4 - 6 months
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Document(s): | |
Created: |
23 Jul 2019 - 15:01
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Changed: |
01 Mar 2023 - 16:10
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URL: |
- Acute myeloid leukemia with t(8;21)(q22;q22) translocation
- Aggressive systemic mastocytosis
- Alpha delta granule deficiency
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Attenuated Chédiak-Higashi syndrome
- Atypical hemolytic uremic syndrome with complement gene abnormality
- Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
- Autosomal dominant macrothrombocytopenia
- Autosomal dominant thrombocytopenia with platelet secretion defect
- Autosomal thrombocytopenia with normal platelets
- Baraitser-Winter cerebrofrontofacial syndrome
- Becker nevus syndrome
- Bernard-Soulier syndrome
- Beta-thalassemia-X-linked thrombocytopenia syndrome
- Bleeding diathesis due to glycoprotein VI deficiency
- Bleeding diathesis due to thromboxane synthesis deficiency
- Bleeding disorder due to CalDAG-GEFI deficiency
- Bleeding disorder due to P2Y12 defect
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- Cerebral sinovenous thrombosis
- Chronic myeloid leukemia
- Chédiak-Higashi syndrome
- Combined deficiency of factor V and factor VIII
- Congenital alpha2-antiplasmin deficiency
- Congenital amegakaryocytic thrombocytopenia
- Congenital autosomal recessive small-platelet thrombocytopenia
- Congenital erythropoietic porphyria
- Congenital factor II deficiency
- Congenital factor V deficiency
- Congenital factor VII deficiency
- Congenital factor X deficiency
- Congenital factor XI deficiency
- Congenital factor XII deficiency
- Congenital factor XIII deficiency
- Congenital high-molecular-weight kininogen deficiency
- Congenital plasminogen activator inhibitor type 1 deficiency
- Congenital prekallikrein deficiency
- Congenital thrombotic thrombocytopenic purpura
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- Diamond-Blackfan anemia
- East Texas bleeding disorder
- Essential thrombocythemia
- F12-related hereditary angioedema with normal C1Inh
- Familial abdominal aortic aneurysm
- Familial afibrinogenemia
- Familial cerebral saccular aneurysm
- Familial dysfibrinogenemia
- Familial hemophagocytic lymphohistiocytosis
- Familial hypodysfibrinogenemia
- Familial hypofibrinogenemia
- Familial platelet disorder with associated myeloid malignancy
- Familial thrombocytosis
- Fetal and neonatal alloimmune thrombocytopenia
- Gaucher disease type 1
- Gaucher disease type 3
- Ghosal hematodiaphyseal dysplasia
- Glanzmann thrombasthenia
- Gray platelet syndrome
- Hereditary combined deficiency of vitamin K-dependent clotting factors
- Hereditary hemorrhagic telangiectasia
- Hereditary isolated aplastic anemia
- Hereditary thrombocytopenia with early-onset myelofibrosis
- Hereditary thrombophilia due to congenital antithrombin deficiency
- Heritable pulmonary arterial hypertension
- Hermansky-Pudlak syndrome due to AP-3 deficiency
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency
- Hermansky-Pudlak syndrome type 8
- Hermansky-Pudlak syndrome type 9
- Homozygous familial hypercholesterolemia
- Hypoplasminogenemia
- Juvenile myelomonocytic leukemia
- Lethal hydranencephaly-diaphragmatic hernia syndrome
- Leukocyte adhesion deficiency type III
- MYH9-related disease
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- Mild hemophilia A
- Mild hemophilia B
- Moderate hemophilia A
- Moderate hemophilia B
- Myelodysplastic syndrome
- Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
- PLG-related hereditary angioedema with normal C1Inh
- Paris-Trousseau thrombocytopenia
- Paroxysmal nocturnal hemoglobinuria
- Polycythemia vera
- Primary hypereosinophilic syndrome
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- Pseudo-von Willebrand disease
- Quebec platelet disorder
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- Scott syndrome
- Severe autosomal recessive macrothrombocytopenia
- Severe hemophilia A
- Severe hemophilia B
- Severe hereditary thrombophilia due to congenital protein C deficiency
- Severe hereditary thrombophilia due to congenital protein S deficiency
- Sialuria
- Sitosterolemia
- Stormorken-Sjaastad-Langslet syndrome
- Thrombocythemia with distal limb defects
- Thrombocytopenia with congenital dyserythropoietic anemia
- Thrombocytopenia-absent radius syndrome
- Thrombomodulin-related bleeding disorder
- Vascular Ehlers-Danlos syndrome
- Von Willebrand disease type 1
- Von Willebrand disease type 2A
- Von Willebrand disease type 2B
- Von Willebrand disease type 2M
- Von Willebrand disease type 2N
- Von Willebrand disease type 3
- Wiskott-Aldrich syndrome
- X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
- X-linked severe congenital neutropenia
- X-linked thrombocytopenia with normal platelets
- ABCC4
- ABCG5
- ABCG8
- ACTB
- ACTN1
- ACVRL1
- ADAMTS13
- ANKRD26
- ANO6
- AP3B1
- AP3D1
- ARPC1B
- BLOC1S3
- BLOC1S5
- BLOC1S6
- CDC42
- CHST14
- COL1A1
- COL3A1
- COL4A1
- COL4A2
- COL5A1
- COL5A2
- CYCS
- DIAPH1
- DTNBP1
- ENG
- ETV6
- F10
- F11
- F12
- F13A1
- F13B
- F2
- F5
- F7
- F8
- F9
- FERMT3
- FGA
- FGB
- FGG
- FLII
- FLNA
- FYB1
- GATA1
- GDF2
- GFI1B
- GGCX
- GNE
- GP1BA
- GP1BB
- GP6
- GP9
- HOXA11
- HPS1
- HPS3
- HPS4
- HPS5
- HPS6
- HRG
- IKZF5
- ITGA2B
- ITGB3
- KDSR
- KNG1
- LMAN1
- LYST
- MCFD2
- MECOM
- MPIG6B
- MPL
- MYH9
- NBEA
- NBEAL2
- P2RY12
- PIGA
- PLA2G4A
- PLAU
- PLG
- PROC
- PROS1
- PTGS1
- RAP1B
- RASGRP2
- RBM8A
- RUNX1
- SERPINC1
- SERPIND1
- SERPINE1
- SERPINF2
- SLFN14
- SMAD4
- SRC
- STIM1
- STXBP2
- TBXA2R
- TBXAS1
- THBD
- THPO
- TPM4
- TUBB1
- VIPAS39
- VKORC1
- VPS33B
- VWF
- WAS
-
Trombosis - Hemostasis (107 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95% ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95% ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95% ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95% ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95% ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95% ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95% ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95% ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95% AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95% ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95% BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95% BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95% BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95% CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95% CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95% COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95% COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95% COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95% COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95% COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95% COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95% CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95% DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95% ENG 95.00 0 NM_000118.3/ interpretable range CS1>95% ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95% F10 95.00 0 NM_000504.3/ interpretable range CS1>95% F11 95.00 0 NM_000128.3/ interpretable range CS1>95% F12 95.00 0 NM_000505.3/ interpretable range CS1>95% F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95% F13B 95.00 0 NM_001994.2/ interpretable range CS1>95% F2 95.00 0 NM_000506.3/ interpretable range CS1>95% F5 95.00 0 NM_000130.4/ interpretable range CS1>95% F7 95.00 0 NM_000131.4/ interpretable range CS1>95% F8 95.00 0 NM_000132.3/ interpretable range CS1>95% F9 95.00 0 NM_000133.3/ interpretable range CS1>95% FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95% FGA 95.00 0 NM_021871.2/ interpretable range CS1>95% FGB 95.00 0 NM_005141.4/ interpretable range CS1>95% FGG 95.00 0 NM_000509.4/ interpretable range CS1>95% FLII 95.00 0 NM_002017.4/ interpretable range CS1>95% FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95% FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95% GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95% GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95% GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95% GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95% GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95% GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95% GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95% GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95% GP9 95.00 0 NM_000174.4/ interpretable range CS1>95% HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95% HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95% HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95% HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95% HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95% HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95% HRG 95.00 0 NM_000412.3/ interpretable range CS1>95% IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95% ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95% ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95% KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95% KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95% LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95% LYST 95.00 0 NM_000081.3/ interpretable range CS1>95% MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95% MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95% MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95% MPL 95.00 0 NM_005373.2/ interpretable range CS1>95% MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95% NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95% NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95% P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95% PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95% PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95% PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95% PLG 95.00 0 NM_000301.3/ interpretable range CS1>95% PROC 95.00 0 NM_000312.3/ interpretable range CS1>95% PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95% PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95% RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95% RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95% RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95% SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95% SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95% SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95% SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95% SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95% SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95% SRC 95.00 0 NM_005417.4/ interpretable range CS1>95% STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95% STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95% TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95% TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% THPO 95.00 0 NM_000460.3/ interpretable range CS1>95% TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95% TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95% VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95% VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95% VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95% VWF 95.00 0 NM_000552.3/ interpretable range CS1>95% WAS 95.00 0 NM_000377.2/ interpretable range CS1>95% RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95%