| Cytogenetics | FISH | Molecular genetics | NGS |
|---|---|---|---|
| Karyotyping (Amniotic Fluid) | DiGeorge N25 DGCR2 Prenatal | Beta Globin (B thalassemia, Sickle cell anemia) Prenatal | NGS NIPT |
| Karyotyping (Fetal Blood) | DiGeorge II Prenatal | Alpha Globin (A thalassemia) Prenatal | |
| Karyotyping (CVS) | DiGeorge TBX1 / N85A3.3 Prenatal | Cystic Fibrosis Prenatal | |
| DiGeorge VCFS N25 / N85A3 Prenatal | FMF Prenatal | ||
| DiGeorge VCSF TUPLE1 / N85A3 Prenatal | Gaucher Disease Prenatal | ||
| Angelman (UBE3A/D15S10) Prenatal | Duchenne muscular dystrophy DMD Prenatal | ||
| Prader-Willi /Angelman (SNRPN) Prenatal | Spinal Muscular Atrophy SMA (SMNA1/2 NAIP) Werdnig Hoffmann Disease Prenatal |
||
| Williams Buren Prenatal | Beta Globin CNV Prenatal | ||
| Aneuploidy (Chromosomes 1 to 22 + X & Y) Prenatal | Alpha Globin CNV Prenatal | ||
| Telomere (Chromosomes 1 to 22 + X & Y) Prenatal | FRAGILE X Prenatal | ||
| X/Y/21 Prenatal | MICROCEPHALY Prenatal | ||
| Sex Chromosomes (X /Y) Prenatal | Neurodegeneration with brain iron accumulation (NBIA). PANK2/PLA2G6 Prenatal | ||
| Translocation Prenatal | Adenomatous polyposis coli APC (MUTYH) Prenatal | ||
| Amnio Fetal RH Prenatal | |||
| NIPT Fetal RH Prenatal |
