1

Congenital Adrenal Hyperplasia

PCR

Blood

Discriminates between deletions, duplications and normal copy number status of the CYP21A2 gene in patients with CAH

2

COPD/ AAT deficiency

Multiplex PCR

Blood

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

Congenital Adrenal Hyperplasia

PCR-Hybridization

Blood

Testing for 1 1 CYP21A2 mutations

4

Familial Mediterranean Fever

PCR-Hybridization

Blood

Detection of 12 MEFV gene mutations

5

Familial Mediterranean Fever

PCR-Hybridization

Blood

Detection of 12 MEFV gene mutations and SAAI genotypes 1 .1 , 1 .3 and 1.5

6

Gaucher Disease

PCR-Hybridization

Blood

Detection of 8 mutations and two recombinant alleles in the glucocerebrosidase (GBA) gene

7

Alzheimer Disease

PCR-Hybridization

Blood

Detection of isoforms Apo E2, E3 and E4