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CHROMOSOME ANALYSIS OF CONGENITAL DISORDERS BLOOD

Synonym(s):

​KARYOTYPE CONGENITAL DISORDERS BLOOD

Description

Indications

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

Specimen Required

​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.

Storage and Transport

Method

​72-hour synchronised suspension cultures.

Test Results

​Normal or Abnormal. If Abnormal, the karyotypic abnormality is described in accordance to the International System for Human Cytogenomic Nomenclature (ISCN, 2016).

Reference Interval / Value

Turnaround Time

​10 ~ 28 days

Day(s) Test Set up

​Monday - Saturday (office hours)

Remarks

​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.

Change History Notes

Others

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