Reporting of Results

All reporting times are from sample receipt at the laboratory. The laboratory adheres to the target turnaround times provided in professional guidelines of the Association for Clinical Genetic Science (ACGS formerly ACC and CMGS).

For detailed information see the relevant service profile.

Biochemical Genetics

Reports are issued without delay, usually within 24 hours of results being obtained.

Telephone results are followed by written results within 24 hours.


Prenatal samples (rapid aneuploidy screening by QF-PCR)

3 working days.

Prenatal samples (amniotic fluid and CVS karyotype)

14 calendar days.

Prenatal samples (fetal blood karyotype)

10 calendar days.

Prenatal FISH Tests

Results reported simultaneously with routine cytogenetic studies. 

Postnatal urgent blood samples (rapid aneuploidy screening or sexing by QF-PCR)

3 working days.

Postnatal urgent blood sample karyotype

10 calendar days.

Postnatal routine blood sample karyotype

28 calendar days.

Postnatal solid tissue samples (results by karyotype, QF-PCR or array)

28 alendar days.

Postnatal FISH tests

Results are reported simultaneously with postnatal cytogenetic studies.

Postnatal urgent blood sample array

10 calendar days.

Postnatal routine blood sample array

28 calendar days.

Postnatal array follow-up studies (FISH)

28 calendar days following receipt of appropriate sample and FISH probe.

Postnatal breakage studies on blood samples (only)

28 calendar days.

(We aim to complete these within 14 calendar days)

Molecular Genetic Testing

Prenatal diagnosis (PCR based tests)

3 working days: Prenatal diagnosis.

Predictive testing/testing for a known mutation or panel of mutations where results are required for immediate clinical management

10 working days.

Testing for unknown mutations or panel of mutations (non-urgent)

20 working days.

Screening for an unknown mutation in a gene

40 working days.

Testing a panel of genes with Next Generation Sequencing (NGS)

80 working days.

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Willink Biochemical Genetics User Survey 2015


Saint Mary’s Hospital set to deliver world-leading genomics project in fight against cancer and rare diseases