Cytogenetics / Molecular Cytogenetics / Chromosome Microarray Analysis (CMA)

Introduction

The Cytogenetics Laboratory offers a comprehensive array of chromosome investigations for cancers, constitutional abnormalities, and prenatal and postnatal diagnosis. Analyses are performed with the aid of integrated computerised karyotyping workstations. All reports include a description of the cytogenetic findings in accordance to the International System for Human Cytogenomic Nomenclature, and an interpretation of the results. The Laboratory also offers a wide array of metaphase and interphase Fluorescence In Situ Hybridization (FISH) tests, including rapid aneuploidy screening, microdeletion syndrome, and a host of specific malignancy tests for gene fusion / break-apart such as BCR/ABL1, PML/RARA and MLL. The FISH section also offers HER2 gene (ERBB2) amplification detection assay on breast cancer, Lung Cancer panel, Lymphoma panel, and other FISH tests for solid tissues. The Laboratory offers Chromosome Microarray Analysis (CMA) as an adjuvant test for solid tumours to detect chromosomal gains/losses which are submicroscopic or located outside the regions of available FISH probes.

Please refer to Tables 1 and 2 for the list of available FISH probes.

Special Instructions on Fresh Specimen Collection and Handling

1. Please contact the Cytogenetics Laboratory for an appointment before despatching the specimen over for processing (Tel: 63214678/4650).
2. All samples for Cytogenetics studies should be collected under sterile conditions. Send only fresh samples to the Laboratory as soon as possible.
3. Please note:
   • For CMA-Solid Tumours: 10 consecutive, unstained 5µm FFPE tumour sections, accompanied by a copy of H&E section with tumour region marked out.
4. Do not freeze the specimen. A cool pack may be used to ensure that the samples are not exposed to temperatures in excess of 37ºC.
5. Please ensure that all samples arrive at the laboratory at least two (2) hours before closing time.

Operating Hours:
Monday – Friday: 8.00am – 5.30pm
Saturday: 8.00am – 12.00pm

Under the Ministry of Health (MOH) Healthcare Service Act (HCSA), please provide all necessary information on the request form or CPOE, including:

• Patient’s name, NRIC number/Passport number, sex, age, date of birth
• Clinical diagnosis, relevant clinical information
• Specimen type
• Block number (for FFPE FISH)
• Fixation time (for FFPE FISH)
• Cold ischemia time (for ERBB2 FISH)
  
• Name of referring doctor, clinic, telephone/fax number
• Date and time the specimen was taken from the patient
• For tissue specimen, the anatomical site of the specimen
  

For prenatal specimens, also include the following:

• Gestational age
• Volume / weight of specimen
• LMP
• EDD

For FISH tests, also indicate the type of FISH DNA probes required.

Note: The assays used for clinical reporting have undergone robust in-house optimisation and/or validation and are used with appropriate quality assurance and quality control measures in line with laboratory best practice and accreditation. Most are registered for in-vitro diagnostic use (IVD), a small minority may not be formally registered or used "off-label".

Tables

Table 1: Haematology/Oncology Fluorescence In Situ Hybridization (FISH) available probes

Probe Constructions:
1. BA- Breakapart
2. DF- Dual Fusion

Table 2. Haematological/Oncology Fluorescence In Situ Hybridization (FISH) Panel Tests

Click here to view all Cancer/Cancer FISH tests
Click here to view all CMA tests
Click here to view all Postnatal tests
Click here to view all PP FISH tests
Click here to view all Prenatal tests