Cytogenetics

Phone:	9845 3237
Fax:	9845 3238
Email:	gregoryp@chw.edu.au
Location:	Diagnostic Services building, level 1

Cytogenetics is the study of chromosome mutations, via microscopic analysis of the karyotype.

The Department of Cytogenetics offers a complete laboratory service, providing comprehensive chromosome (=karytoype) analysis via the following departmental sections: Blood (= constitutive) karyotyping, Prenatal Diagnosis, Tissue Culture, Oncology, Fluorescence In Situ Hybridisation (FISH).

[Note For fragile(X) testing, and all other molecular genetic tests of germ-line mutations, please contact the Molecular Genetics Department, CHW, on 98453244. These are NOT tested in the Cytogenetics Dept.]

Specimens for routine Cytogenetic Testing:

preferred days of receipt in lab:

Blood specimens are received on any weekday, and are routinely cultured on Tuesday and Friday.

Oncology (bone marrow) specimens for cytogenetic or FISH analysis are received on any weekday.

Prenatal diagnosis specimens processed include amniotic fluid, CVS and fetal blood via cordocentesis. Specimens can be sent to the laboratory on any weekday, but MUST arrive before 5.30pm (unless special arrangement is made with Jill Cross, on 98453231). FAST-FISH is also available by prior arrangement.

The above are our routine collection and processing arrangements. For non-routine specimen types, and out-of-hours or urgent specimens, special arrangements should be made in advance (tel 9845 3237).

The Department of Cytogenetics is a diagnostic laboratory service. Enquiries concerning the availability or interpretation of results, or the acceptance of specimens can be made on 9845 3237.

FISH testing is available for the common trisomies, sex chromosome and individual sub-telomere abnormalities, and a broad range of microdeletion syndromes (see Table 1).

For these FISH tests, there is no Scheduled Medicare fee or item number. Hence private patient referrals are billed, in full, to the patient tested. Fish test costs range up from $175 (for all single probe tests).

CGH Microarray testing: CGH array testing for genome imbalance is available,  primarily for cases already tested for karyotype. To discuss any test, and specimen requirements, feel free to call Dr Greg Peters on 984453237. 

 Specific molecular testing of somatic mutations (limited applications)

For RT-PCR testing of soft tissue tumour specimens, see instructions in Table 2, below.

Generally, Cytogenetics does not include study of any molecular genetic abnormalities, such as fragile(X), haemachromatosis, and many single-gene mutations of the germ line. However, for some somatic mutations of oncological significance: The Cytogenetics Dept at CHW does offer PCR testing of fusion gene transcripts of diagnostic translocations. These are from certain types of solid tumor, as listed below. At present, all are soft tissue tumours.

[Note For fragile(X) testing, and all other molecular genetic tests of germ-line mutations, please contact the Molecular Genetics Department, CHW, on 98453244. These are NOT tested in the Cytogenetics Dept.]

Table 2:

Tumour Translocations list: PCR testing for tumour fusion transcripts, as currently available through the Cytogenetics Dept, CHW. (Note: there is no Medicare scheduled fee for these tests. For non-CHW referrals, the cost per test is $175 ). If you wish to have one of these tests performed, please contact the lab by phone, prior to sending the specimen. Contacts: Greg Peters or Artur Darmanian: tel: 02-98453237. Fax: 02-98453238

*Liquid nitrogen should be used for snap-freezing. Store in liq.N, or at -70C, and transport in liq.N or dry ice. Where acceptable, fixed samples may be in formalin or embedded in paraffin. However, results are not guaranteed, for specimens that have been fixed for long periods. GP/AD 24/5/06

Senior Staff

• Dr Greg Peters
• Dr Art Daniel
• Dr Ellie Smith

Related Services and Clinics

• Genetics Clinics
• Molecular Genetics