KARYOTYPE CONGENITAL DISORDERS BLOOD
- Previous family history of chromosome abnormality - Children with multiple congenital abnormalities - Recurrent abortions or infertility - Unexplained mental retardation and/dysmorphology
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.
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, 2016).
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.
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