Parameter Method Sample Type Purpose Significance TAT
1 Congenital Adrenal Hyperplasia PCR   Blood Confirmation of CYP21A2 gene in patients with CAH Discriminates between deletions, duplications and normal copy number status of the CYP21A2 gene in patients with CAH 3 Days
2 COPD/ AAT deficiency Multiplex PCR   Blood Confirmation of AAT Detects 'S and 'Z variants of the SERPINAI gene predisposing individuals to chronic obstructive pulmonary disease (CDPD) and liver disease due to deficiency to alpha-I antitrypsin (AAT) 3 Days
3 Congenital Adrenal Hyperplasia PCR-Hybridization Blood Confirmation of CAH Testing for 1 1 CYP21A2 mutations 2 Days
4 Familial Mediterranean Fever PCR-Hybridization Blood Confirmation of MEFVgene mutations Detection of 12 MEFV gene mutations 2 Days
5 Familial Mediterranean Fever PCR-Hybridization Blood Confirmation of FMF – SAA1 Detection of 12 MEFV gene mutations and SAAI genotypes 1 .1 , 1 .3 and 1.5 2 Days
6 Gaucher Disease PCR-Hybridization Blood Confirmation of Gauche Detection of 8 mutations and two recombinant alleles in the glucocerebrosidase (GBA) gene 2 Days
7 Alzheimer Disease   PCR-Hybridization Blood Confirmation of Apo E   Mutation Detection of isoforms Apo E2, E3 and E4 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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