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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 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. 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.

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