• Cri-du-chat syndrome (5p-)
• DiGeorge syndrome/Velocardiofacial syndrome/ CATCH 22 [del(22)(q11.2)]
• Miller-Dieker syndrome/isolated lissencephaly [del(17)(p13.3)]
• Prader-Willi syndrome [del(15)(q11q13)]
• Angelman syndrome [del(15)(q11q13)]
• Smith-Magenis syndrome [del(17)(p11.2)]
• Williams syndrome [del(7)(q11.23)]
• Wolf-Hirschhorn syndrome (4p-)
• X-linked ichthyosis/steroid sulfatase deficiency/Kallman syndrome [del(X)(p22.3)]

FISH Analysis for Oncology

• 5q- syndrome (deletion of 5q31 related with MDS, AML and de novo AML)
• B-cell acute lymphocytic leukemia (ALL) [t(12;21)(p13;q22)]
• Acute myeloblastic leukemia with maturation (AML-M2)[t(8;21)(q22;q22)]
• Chronic myeloid leukemia (CML) [t(9;22)(q34;q11)]
• Myeloproliferative disorders and Myelodysplastic syndrome [Deletion of 20q]
• Chronic lymphoblastic leukemia (B-CLL) [Trisomy 12]
• Acute promyelocytic leukemia (APL) [t(15;17)(q22;q21.1)]
• Retinoblastoma [del(13)(q14)]

FISH Analysis for other Chromosome Abnormalities

• Chromosome aneuploidy, mosaicism, chromosomal sex determination
• Chromosome rearrangement