Genome Screen Stroke

• Test Code: ON087

Test Description

Stroke Genome Screen is a cutting-edge genetic analysis technique that examines genes associated with stroke and incorporates findings from research papers to provide personalized health information. Although individuals with pathogenic variants (PV) related to hereditary stroke may not exhibit symptoms (reduced penetrance), they have a higher risk of stroke compared to the general population. Stroke, characterized by cerebral infarction or cerebral hemorrhage, can be caused by various genetic factors in addition to common risk factors such as hypertension, diabetes, hyperlipidemia, smoking, drinking, hemostatic disorders, coronary artery disease, and periodontal disease. Stroke Genome Screen employs NGS to analyze 34 genes associated with hereditary stroke, offering opportunities for prevention, early diagnosis, and improved treatment outcomes.

Ordering information

• Turnaround time : 14 days
• Specimen : EDTA WB 3ml
• Method : NGS
• Required documents : Requisition form, Informed consent form

Assay information

• Target Disease : 23 major diseases (Screen 34 genes with high genetic penetration in 23 major diseases at once)
  • Ischemic stroke due to occlusion of aorta and arterioles (beta thalassemia, hyperhomocysteinemia, Fabry’sdisease, elastic fiber false yellowoma), ischemic stroke due to obstruction of arterioles (cardacil, caracil, retinal angiopathywith white matter dysplasia), psychogenic Stroke (long interval heart syndrome), ischemic stroke due to other causes (vascular Allus-Danrosssyndrome, Marfansyndrome, polyarteritiscrystalline, arterial torsion syndrome), cerebrovascular disease and migraine (familial hemiplegia migraine), Moya Moyadisease (moyamoyadisease), Ischemic stroke, moyamoyadisease, cardacil

Result

Limitations

• Genetic variation is divided into five categories, pathogenic variant (PV), likely pathogenic variant (LPV), variant of unknown significance (VUS), likely benign variant (LBV), and benign variant (BV), according to 2015 ACMG/AMP.
• The disease relevance of sequence variation according to 2015 ACMG/AMP guidelines is analyzed by a specialist in the department of laboratory medicine, combining various evidences such as allele frequency in population databases, frequency, function analysis and computer prediction, and papers and mutation databases. However, the interpretation of the variation could be changed as additional evidence builds up atier the results are reported.
• In this test, it is a rule to report mainly pathogenic variant and likely pathogenic variant, which have high or very high disease relevance, and not to report variant of unknown significance, likely benign variant, and benign variant.
• The genes included in the test include the entire exon, but in some areas sequencing may not be sufficiently covered. In addition, if a highly homologous sequence exists, the sequencing of the base may not be accurate, and variations in large deletions or duplications or non-protein-coding sequence areas may be difficult to detect.
• Even if a pathogenic variant is found in disease-related genes, it does not guarantee a 100% occurrence of the disease. The timing and clinical manifestation of disease onset can vary among individuals.
• Even if no pathogenic variant associated with the disease is found, there is still a possibility of disease occurrence due to non-genetic factors such as environmental influences and lifestyle habits.

Verifying more specific details about the Test