Cardiology

1

Familial Hypercholesterolemia

PCR In- house

Blood

Confirmation of genetic disorder characterized by high cholesterol levels and early cardiovascular disease

2

Hypotropic Cardiomyopathy

PCR In- house

Blood

Confirmation of inherited as an autosomal dominant trait that attributed to mutations

3

Pulmonary Hypertension

PCR In- house

Blood

Confirmation of mutation in BMPR2 and EIF2AK4 that leads to the condition

4

Thorasic Aortic Aneurysms and Aortic Diseases

PCR In- house

Blood

Confirmation of mutation in ACTA2 gene EIF2AK4 that leads to the condition

5

Left Ventricular Noncompaction

PCR In- house

Blood

Confirmation of mutation in G4.5gene EIF2AK4 that leads to the condition

6

Left Ventricular Noncompaction

PCR In- house

Blood

Confirmation of mutation in ACTC1, LMNA,MYBPC3,MYH7, TNNT2 that leads to the condition

7

ACE gene I/D Polymorphism genotype

PCR In- house

Blood

Confirmation of ACE gene I/D Polymorphism that leads to the condition

8

Hereditary Lymphedema Type 1

PCR In- house

Blood

Confirmation of  mutation in FLT4 gene (VEGFR 3) that leads to the condition

9

Lymphedema distichiasis Syndrome

PCR In- house

Blood

Confirmation of  mutation in FOXC2 gene that leads to the condition

10

Atherothrornbosis

PCR In- house

Blood

Identifies homozygousity for the -455G>A fibrinogen beta-chain (KGB) allele which may increase susceptibility to atherothrornbosis in at-risk patients

11

Venous Thromhoemholism

PCR In- house

Blood

Detects the most common genetic risk factor associated with venous thromhoemholism, the 1 691 G>A mutation in the Factor V TV) gene

12

Thrombotic disorders

PCR In- house

Blood

Identifies patients with the unfavorable TT genotype for Factor Ml (FXII), who may have an increased susceptibility to thrombotic disorders

13

Hereditary Thrombophilia

PCR In- house

Blood

Identifies carriers at the protective 34L variant of Factor XIII (FXIII) among at-risk patients of hereditary thrombophilia

14

Hyperhomocysteinemia

PCR In- house

Blood

Detect common mutations in the methylenetetrahyärofolate reductase (MTHFR) gene causing hyperhomocysteinemia, which is a risk factor for cardiovascular disease

15

plasminogen activator inhibitor-I

PCR In- house

Blood

Detects the 4G risk allele in the plasminogen activator inhibitor-I (PAI- 1) gene, associated with cardiovascular disease and pregnancy complications

16

Venous Thromboemholism

PCR In- house

Blood

Detects the second most important genetic risk factor for venous thromboemholism in the prothromlj ) (PTH) gene