PGD / PGS – PGTM / PGTS

FISH Molecular genetics NGS
DiGeorge N25 DGCR2 PGD Beta Globin (B thalassemia, Sickle cell anemia) PGD NGS PGTA
DiGeorge II PGD Alpha Globin (A thalassemia) PGD
DiGeorge TBX1 / N85A3.3 PGD Cystic Fibrosis PGD
DiGeorge VCFS N25 / N85A3 PGD FMF PGD
DiGeorge VCSF TUPLE1 / N85A3 PGD Gaucher Disease PGD
Angelman (UBE3A/D15S10) PGD Duchenne muscular dystrophy DMD PGD
Prader-Willi /Angelman (SNRPN) PGD Spinal Muscular Atrophy SMA (SMNA1/2 NAIP)
Werdnig Hoffmann Disease PGD
Williams Buren PGD FRAGILE X PGD
X/Y/21 PGS Adenomatous polyposis coli APC (MUTYH) PGD
Aneuploidy (Chromosomes 1 to 22 + X & Y) PGS RH PGD
Sex Chromosomes (X /Y) PGS SRY PGD
Translocation PGD