CHROMOSOME ANALYSIS OF CONGENITAL DISORDERS BLOOD

​Peripheral blood (3 - 5ml) in sodium/lithium heparin. Invert gently several times to mix blood and vial contents to prevent clotting (clotted blood will not work). Do not use EDTA or plain tubes.

​- Previous family history of chromosome abnormality
- Children with multiple congenital abnormalities
- Recurrent abortions or infertility
- Unexplained mental retardation and/dysmorphology

​72-hour synchronised suspension cultures.

​Normal or Abnormal. If Abnormal, the karyotypic abnormality is described in accordance to the International System for Human Cytogenomic Nomenclature (ISCN, 2024).

​10 ~ 28 days

​Monday - Saturday (office hours)

​Breakage studies for Fragile X and Fanconi Anaemia are not performed by this lab.

Indicate clearly the clinical diagnosis on the cytogenetics request form or CPOE. Do not despatch a specimen near a weekend or a public holiday to avoid unnecessary delays.