Chromosome analysis – Prenatal Karyotype (Amniotic fluid or Chorionic Villus)

Testing Laboratory

Department

Diagnostic Genetics

Delphic Registration Code (Alpha Code)

DGEN

Test Code (Numeric Code)

4218

Laboratory Handling

Registration

Place the sample into the box labelled DGEN on the shelf next to the dumbwaiter.

Sample Stability

Specimens to be kept at room temperature (>8 degrees Celsius to <24 degrees Celsius) and sent to LabPlus urgently.

Associated Tests

• Rapid Aneuploidy Screen, QF-PCR – Prenatal (Amniotic Fluid or Chorionic Villus)

Synonyms

Prenatal chromosome analysis, CV, CVS, Prenatal, Prenatal karyotype, G-banded analysis, Amniotic Fluid, AF, amniocentesis, prenatal cytogenetics

Turnaround Time

3 weeks

Samples must arrive in the laboratory on the day of the procedure or the following day.

Specimen Type

• Amniotic Fluid
• Chorionic Villus (CVS)

Specimen Requirements

Tube/Container Type:

Preferred

• Specimen Container

Preferred Sample Volume (ml)

20

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• N/A

Preferred Sample Volume (ml)

20

Additional Specimen Information

Amniotic Fluid (AF)- 20 mL of amniotic fluid collected aseptically into a sterile universal container (available on request from the Cytogenetics Laboratory).

Chorionic Villus (CVS): 20 mg of clean chorionic villi collected aseptically into a sterile container containing transport medium (containers and transport medium available on request from the Cytogenetics Laboratory). Send as soon as possible, as delays may affect cell growth.

Accompanying 4mL EDTA Maternal blood is ALWAYS required.

Test Method

Chorionic villus and Amniotic fluid is grown in culture and cells are arrested at metaphase to produce visible G-banded chromosomes for analysis.
The number of cells analysed and counted are based on the NPAAC guidelines.

Limitations / Interference

Micro-deletions/duplications (below 5-8MB) and cryptic translocations may not be excluded.

Contact Information