Alpha Globin gene mutations (21 mutations) |
Cystic fibrosis mutations (35 mutations) |
Cardiovascular Disease panel (4 mutations): FV leiden, FII, MTHFR C677T, MTHFR A1298T |
Cardiovascular Disease panel ( 12 mutations): FV Leiden, FV H1299R, FII (G20210A) MTHFR C677T, MTHFR A1298C, PAI-1 (4G/5G), FXIII (V34L), Bfibrinogen, HPA1, ACE, Apo B (R3500Q), Apo E (codon 112), Apo E (codon 158).) |
Factor V leiden |
Factor II prothrombin mutation G20210 |
FMF 26 mutations: exon 1;E84K, exon 2;L110P, E148Q, E148V, E167D, E230K/Q,T267I, P283L, G304R, in exon 3; P369S, in exon 5; F479L and in exon 10; M680I (G/C-A), M694I, M694V, K695R, V726A, A744S, R761H |
HLA B27 allele |
HLA B51/52 alleles |
Y chromosome microdeletion (AZFa, AZFb, AZFc) |
Hemochromatosis: H63D, C282Y, S65C |
MTHFR (2 mutations: C677T, A1298T) |
Aneuploidy screening by Next Generation Sequencing for all chromosomes |