GENETIC
- 21 Hydroxylase – deficiency
- ACE
- APO B
- APO E
- BCRA1
- BCRA1+2
- BCRA2
- Beta Fibrinogen
- Beta Thalassemia
- Congenital deafness – whole coding region – GENE GJB2 (code CX26)
- Congenital deafness – entire coding region – GENE GJB2 (code CX26)
- Couple karyotype on peripheral blood
- Cystic Fibrosis (152 MUTATIONS)
- Factor II (prothrombin G20210A)
- FSHR gene (for FSH receptor)
- Hemochromatosis (3 mutations) – HFE (C282Y,S65C,H63D)
- HLA-G
- LEIDEN FACTOR V
- MHL1 – gene sequence analysis
- MTHFR MUTATION C677T/A1298C
- MYOTONIC DYSTROPHY-SI STEINERT DISEASE (MPK)
- PAI 1
- Panel 4 mutations (factor V, II, MTHFR C677T A1298C)
- Panel 5 mutations (Factor V Leiden, V Cambridge, Y1702C, H1299R, Factor II)
- Spinal muscular atrophy – SMA (SMA1)
- X-FRAGILE FRAXA
- X-FRAGILE FRAXE
- Y chromosome microdeletion
- Karyotype on peripheral blood
- Microdeletion of the Y chromosome
