Parameter Method Sample Type Purpose Significance TAT
1 Familial Hypercholesterolemia PCR In- house Blood Confirmation of specific mutation Confirmation of genetic disorder characterized by high cholesterol levels and early cardiovascular disease 15 days from the time of sample reception
2 Hypotropic Cardiomyopathy PCR In- house Blood Confirmation of specific mutation Confirmation of inherited as an autosomal dominant trait that attributed to mutations 15 days from the time of sample reception
3 Pulmonary Hypertension PCR In- house Blood Confirmation of specific mutation Confirmation of mutation in BMPR2 and EIF2AK4 that leads to the condition 15 days from the time of sample reception
4 Thorasic Aortic Aneurysms and Aortic Diseases PCR In- house Blood Confirmation of specific mutation Confirmation of mutation in ACTA2 gene EIF2AK4 that leads to the condition 15 days from the time of sample reception
5 Left Ventricular Noncompaction PCR In- house Blood Confirmation of specific mutation Confirmation of mutation in G4.5gene EIF2AK4 that leads to the condition 15 days from the time of sample reception
6 Left Ventricular Noncompaction PCR In- house Blood Confirmation of specific mutation Confirmation of mutation in ACTC1, LMNA,MYBPC3,MYH7, TNNT2 that leads to the condition 15 days from the time of sample reception
7 ACE gene I/D Polymorphism genotype PCR In- house Blood Confirmation of specific mutation Confirmation of ACE gene I/D Polymorphism that leads to the condition 15 days from the time of sample reception
8 Hereditary Lymphedema Type 1 PCR In- house Blood Confirmation of specific mutation Confirmation of  mutation in FLT4 gene (VEGFR 3) that leads to the condition 15 days from the time of sample reception
9 Lymphedema distichiasis Syndrome PCR In- house Blood Confirmation of specific mutation Confirmation of  mutation in FOXC2 gene that leads to the condition 15 days from the time of sample reception
10 Atherothrornbosis PCR In- house Blood Confirmation of FGB -455G mutation   Identifies homozygousity for the -455G>A fibrinogen beta-chain (KGB) allele which may increase susceptibility to atherothrornbosis in at-risk patients 3 Days
11 Venous Thromhoemholism PCR In- house Blood Confirmation of FV Leiden   Detects the most common genetic risk factor associated with venous thromhoemholism, the 1 691 G>A mutation in the Factor V TV) gene 3 Days
12 Thrombotic disorders PCR In- house Blood Confirmation of FXII 46C   Identifies patients with the unfavorable TT genotype for Factor Ml (FXII), who may have an increased susceptibility to thrombotic disorders 3 Days
13 Hereditary Thrombophilia PCR In- house Blood Confirmation of FXIII V34L Identifies carriers at the protective 34L variant of Factor XIII (FXIII) among at-risk patients of hereditary thrombophilia 3 Days
14 Hyperhomocysteinemia PCR In- house Blood Confirmation of MTHFR 677C>T & MTHFR 677A>C   Detect common mutations in the methylenetetrahyärofolate reductase (MTHFR) gene causing hyperhomocysteinemia, which is a risk factor for cardiovascular disease 3 Days
15 plasminogen activator inhibitor-I PCR In- house Blood Confirmation of PAI-1 4G/5G   Detects the 4G risk allele in the plasminogen activator inhibitor-I (PAI- 1) gene, associated with cardiovascular disease and pregnancy complications 3 Days
16 Venous Thromboemholism PCR In- house Blood Confirmation of PTH 20210G>A   Detects the second most important genetic risk factor for venous thromboemholism in the prothromlj ) (PTH) gene 3 Days
17 Thrombophilic mutations 1 Multiplex PCR   Blood Confirmation of FV-PTH Simultaneous detection of the most important thrombophilic mutations 1 691 G>A in the Factor V gene and 2021 OG>A in the prothrombin gene 3 Days
18 MTHFR gene mutation Multiplex PCR Blood Confirmation of MTHFR Simultaneous detection of the most common two mutations in the MTHFR gene: 677C>T and 1 298A>C 3 Days
19 cardiovascular diseases PCR-Hybridization Blood Confirmation of CVD Testing for 1 2 genetic variants associated with cardiovascular diseases 2 Days
20 Atherosclerosis PCR-Hybridization Blood Confirmation of Atherosclerosis Testing for 8 genetic variants predisposing to atherosclerosis 2 Days
21 Venous Thromboembolism PCR-Hybridization Blood Confirmation of Venous Thromboembolism Testing for 9 genetic variants predisposing to venous thromboembolism 2 Days
22 FV Leiden PCR-Hybridization Blood Confirmation of FV Leiden Detection of the Factor V gene mutation R506Q (FV Leiden) 2 Days
23 Factor V Leiden and prothrombin gene mutations PCR-Hybridization Blood Confirmation of FV-PTH Detection of the Factor V Leiden and prothrombin gene mutations 2 Days
24 Factor V Leiden, prothrombin and MTHFR gene mutations PCR-Hybridization Blood Confirmation of Fv-PTH-MTHFR Detection of the Factor V Leiden, prothrombin and MTHFR gene mutations Detection of the MTHFR gene mutation 677C>T 2 Days
25 Prothrombin gene mutation PCR-Hybridization Blood Confirmation of PTH Detection of the prothrombin gene mutation 2021 OG>A 2 Days

Contact

Rajiv Gandhi Centre for Biotechnology (RGCB),
Thycaud Post, Poojappura,
Thiruvananthapuram - 695 014, Kerala, India
+91-471-2529400 | 2347975 | 2348753
+91-471-2348096
webmaster@rgcb.res.in

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Last Updated on: September 22, 2020
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