List Of Test And Sample Collection (Molecular)

LIST OF AVAILABLE TESTS AND SAMPLE COLLECTION

1. Polymerase Chain Reaction (PCR):

- Southeast Asian Ovalocytosis (SAO)

- Sex-determining Region Y (SRY) gene*

1. DNA Extraction:

- Blood samples

- Tissue samples: chorionic villus sampling, fresh tissue sample

1. Microdeletion Y Screening**

2. Multiplex PCR for Molecular Alpha Thalassaemia***

3. DNA Sequencing (mainly for research purposes)

Note:

*Normally samples are sent from Genetics Unit for ambioguous genitalia or other sex related syndrome / abnormality.

**Normally sampels are sent form Genetics Unit for azoospermia / oligospermia or other sex related syndrome / abnormality.

***Normally samples are sent form Haematology Unit.

SAMPLE COLLECTION

All samples sent to the Molecular Diagnostic Unit should be requested via appointment. Appointment can be done by contacting 04-562 2293. Samples can be sent from Monday to Thursday accompanied by a complete and correctly filled genetic request form.

1. The request form shall be complete and correctly filled with necessary information:

- Name

- Identification number (IC or passport number)

- Sex

- Date of birth (DOB)

- Date and time of specimen taken

- Hospital and ward / clinic

- Father’s and mother’s name and age

- Family history

- Patient investigation of unrecognized/suspected syndrome/sex abnormality

- Name, signature and stamp of requesting doctor

1. PCR SRY gene:

- 2.5 ml of blood is collected in EDTA tube. However, if the sample is send together with chromosomal study to Genetics Unit, the blood should be collected in lithium heparin tube*. The blood should be mixed well to prevent clotting.

- The blood should be transported in ice (make sure not to freeze the blood) and accompanied by a complete and correctly filled genetics request form.

*Note: Please refer to Chapter 4 for more details.

1. PCR SAO:

- 2.5 ml of blood is collected in EDTA tube. Patient blood sample is preferable to send together with parents’ blood sample. The blood should be mixed well to prevent clotting.

- For prenatal screening, chorionic villus sampling (CVS) can be sent to Molecular Diagnostic Unit together with parents’ blood sample.

- The blood should be transported in ice (make sure not to freeze the blood) and accompanied by a complete and correctly filled genetic request form.

1. Blood DNA Extraction:

- 2.5 ml of blood is collected in EDTA tube. The blood should be mixed well to prevent clotting.

- The blood should be transported in ice (make sure not to freeze the blood) and accompanied by a complete and correctly filled genetic request form.

1. Tissue DNA Extraction:

Please contact the laboratory (04-562 2293) for more details regarding sending samples for tissue DNA extraction.

1. Microdeletion Y Screening:

- 2.5 ml of blood is collected in EDTA tube. However, if the sample is send together with chromosomal study to Genetics Unit, the blood should be collected in lithium hepari

1. Multiplex PCR Molecular Alpha Thalassaemia

- 2.5 ml of blood is collected in EDTA tube. The blood should be mixed well to prevent clotting.

- The blood should be transported in ice (make sure not to freeze the blood) and accompanied by a complete and correctly filled genetics request form.

-The request should be attached with FBP and HB Analysis result of the patient.

1. DNA Sequencing:

- Molecular Diagnostic Unit accepts purified PCR product / amplicon and plasmid with the size less than 1 KB together with the diluted primer/s.

- The samples should be eluted in nuclease free water.

- We are preferred to get the minimum of a batch of total 7 samples and controls for each request.

- Please make sure to send the picture your gel electrophoresis together with the samples and primer/s.

Please contact the laboratory (04-562 2293) for more details regarding sending samples for DNA sequencing.