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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessStroke, differential diagnosis


Short information

A panel containing 15 guideline-curated and altogether 49 curated genes for the comprehensive analysis of the genetic susceptibility for stroke

Number of genes
13 Accredited laboratory test
Examined sequence length
44,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
COL4A15010NM_001845.6AD, Mult
FOXF21335NM_001452.2AD, Mult
HBB444NM_000518.5AR, Mult
HTRA11443NM_002775.5AD, AR

Informations about the disease

Clinical Comment

Stroke is a vascular disease of the brain with the common feature of acute brain tissue damage due to vascular occlusion or cerebral haemorrhage. TIA (transitory ischaemic attack) is a circumscribed neurological dysfunction that is completely reversible within one day. Ischaemic strokes are common (80%), primary brain and subarachnoid haemorrhages are rare (11% and 3%). Cardioembolic and microangiopathic (lacunar) strokes each account for around a quarter of all ischaemias, stenoses of vessels supplying the brain for 10%. 30-35% of strokes are cryptogenic. Stroke is the second most common cause of death in D and all other countries and often leads to disability.


  • Alias: Ischämischer Hirninfarkt
  • Allelic: Acrodysostosis 2, with/-out hormone resistance (PDE4D)
  • Allelic: Acromicric dysplasia (FBN1)
  • Allelic: Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
  • Allelic: Alzheimer disease 1, familial (APP)
  • Allelic: Alzheimer disease, late-onset, susceptibility to (NOS3)
  • Allelic: Angiotensin I-converting enzyme, benign serum increase (ACE)
  • Allelic: Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
  • Allelic: Anterior segment dysgenesis 4 (PITX2)
  • Allelic: Axenfeld-Rieger syndrome, type 1 (PITX2)
  • Allelic: Axenfeld-Rieger syndrome, type 3 (FOXC1)
  • Allelic: Basal laminar drusen (CFH)
  • Allelic: Blood group, ABO system (ABO)
  • Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
  • Allelic: Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
  • Allelic: Chilblain lupus (TREX1)
  • Allelic: Coronary artery spasm 1, susceptibility to (NOS3)
  • Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
  • Allelic: Diabetes, type 1, susceptibility to (PTPN22)
  • Allelic: Ectopia lentis, familial (FBN1)
  • Allelic: Ehlers-Danlos syndrome, vascular type (COL3A1)
  • Allelic: Geleophysic dysplasia 2 (FBN1)
  • Allelic: Hashimoto thyroiditis (CTLA4)
  • Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 1 (CFH)
  • Allelic: Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (CTLA4)
  • Allelic: Lateral meningocele syndrome (NOTCH3)
  • Allelic: Leukemia, acute myeloid, somatic (JAK2)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Lymphangioleiomyomatosis (TSC1)
  • Allelic: MASS syndrome (FBN1)
  • Allelic: Macular degeneration, age-related, 4 (CFH)
  • Allelic: Macular degeneration, age-related, 7 (HTRA1)
  • Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
  • Allelic: Malaria, resistance to (FCGR2B)
  • Allelic: Malaria, severe, susceptibility to (FCGR2A)
  • Allelic: Marfan lipodystrophy syndrome (FBN1)
  • Allelic: Microvascular complications of diabetes 3 (ACE)
  • Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
  • Allelic: Myelofibrosis, somatic (JAK2)
  • Allelic: Myocardial infarction, susceptibility to (ACE)
  • Allelic: Myofibromatosis, infantile 2 (NOTCH3)
  • Allelic: Neurofibromatosis, type 1 (NF1)
  • Allelic: Placental abruption (NOS3)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 1 (F5)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 2 (F2)
  • Allelic: Prostate cancer, somatic (ZFHX3)
  • Allelic: Pseudomonas aeruginosa, susceptibility to chronic infection, cystic fibrosis (FCGR2A)
  • Allelic: Pseudoxanthoma elasticum (ABCC6)
  • Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
  • Allelic: Renal tubular dysgenesis (ACE)
  • Allelic: Retinal arteries, tortuosity of (COL4A1)
  • Allelic: Rheumatoid arthritis, susceptibility to (PTPN22)
  • Allelic: Ring dermoid of cornea (PITX2)
  • Allelic: SARS, progression of (ACE)
  • Allelic: Stiff skin syndrome (FBN1)
  • Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
  • Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
  • Aicardi-Goutieres syndrome 5 (SAMHD1)
  • Angiopathy, hereditary, with nephropathy, aneurysms, muscle cramps (COL4A1)
  • Aortic aneurysm, familial thoracic 6 (ACTA2)
  • Arterial calcification, generalized, of infancy, 2 (ABCC6)
  • Arterial tortuosity syndrome (SLC2A10)
  • Blood group, ABO system (ABO)
  • Brain small vessel disease 2 (COL4A2)
  • Brain small vessel disease with/-out ocular anomalies (COL4A1)
  • Budd-Chiari syndrome (F5)
  • Budd-Chiari syndrome, somatic (JAK2)
  • CARASIL syndrome (HTRA1)
  • Capillary malformation-arteriovenous malformation 1 (RASA1)
  • Cavernous malformations of CNS + retina (KRIT1)
  • Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
  • Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
  • Cerebral cavernous malformations 3 (PDCD10)
  • Cerebral cavernous malformations-1 (KRIT1)
  • Cerebral cavernous malformations-2 (CCM2)
  • Cerebral infarction, susceptibility to (PRKCH)
  • Complement factor H deficiency (CFH)
  • Dysprothrombinemia (F2)
  • Erythrocytosis, somatic (JAK2)
  • Fabry disease (GLA)
  • Fabry disease, cardiac variant (GLA)
  • Factor V deficiency (F5)
  • Galactosialidosis (CTSA)
  • Grange [arterial occlusive] syndrome (YY1AP1)
  • Hemophilia A (F8)
  • Hemorrhage, intracerebral, susceptibility to (COL4A1)
  • Hemorrhage, intracerebral, susceptibility to (COL4A2)
  • Hyperkeratotic cutaneous capillary-venous malformations ass. with cerebral capill. malform. (KRIT1)
  • Hypertension, pregnancy-induced (NOS3)
  • Hypertension, susceptibility to (NOS3)
  • Hypoprothrombinemia (F2)
  • Ischemic stroke, susceptibility to (NOS3)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Lupus nephritis, susceptibility to (FCGR2A)
  • Marfan syndrome (FBN1)
  • Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
  • Moyamoya 6 with achalasia (GUCY1A3)
  • Moyamoya disease 2, susceptibility to (RNF213)
  • Moyamoya disease 5 (ACTA2)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Polycythemia vera, somatic (JAK2)
  • Polymicrogyria with/-out vascular-type EDS (COL3A1)
  • Protein Z deficiency (PROZ)
  • Sickle cell anemia (HBB)
  • Small vessel stroke [panelapp] (FOXF2)
  • Stroke, hemorrhagic (ACE)
  • Stroke, ischemic, susceptibility to (F2)
  • Stroke, ischemic, susceptibility to (F5)
  • Stroke, susceptibility to (ALOX5AP)
  • Systemic lupus erythematosus susceptibility to (PTPN22)
  • Systemic lupus erythematosus, susceptibility to (CTLA4)
  • Systemic lupus erythematosus, susceptibility to (DNASE1)
  • Systemic lupus erythematosus, susceptibility to (FCGR2B)
  • Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
  • Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
  • Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
  • Thrombocythemia 3 (JAK2)
  • Thrombophilia due to activated protein C resistance (F5)
  • Thrombophilia due to thrombin defect (F2)
  • Thrombophilia, susceptibility to, due to factor V Leiden (F5)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
  • Vasculopathy, retinal, with cerebral leukodystrophy (TREX1)
  • Watson syndrome (NF1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Mult
  • SMu
  • XL
  • n.k.
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined