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List Of Test And Sample Collection (Genetics)

LIST OF AVAILABLE TESTS

Cytogenetics:

  • Blood cytogenetics
  • Bone marrow cytogenetics*

*Note: The bone marrow cytogenetics is not MS ISO 15189 accredited.

Molecular Cytogenetics (FISH):

  • Di George Syndrome microdeletion probe
  • Prader Willi / Angelman Syndrome microdeletion probe
  • William Syndrome microdeletion probe
  • Cri-du Chat Syndrome microdeletion probe
  • Wolf-Hirschhorn Syndrome microdeletion probe
  • Whole Chromosome Painting (WCP)
  • Down Syndrome probe (probe 21)
  • Patau Syndrome probe (probe 13)
  • Edwards Syndrome probe (probe 18)

Molecular Genetics (Molecular Diagnostics Unit):

  • Sex-determining Region Y (SRY) gene (Done together with cytogenetics test for Ambiguous genitalia case or sex related syndrome / abnormality)
  • Microdeletion Y Screening (Done together with cytogenetics test for azoospermia / oligospermia case or sex related syndrome / abnormality)
Indications for cytogenetics test (karyotyping)
Significant family history of Chromosome rearrangements.
Mental retardation of possible chromosomal origin.
A relative with history of pregnancy losses, malformed foetus or stillbirth.
Patients with Primary or secondary amenorrhea or premature menopause.
Sperm abnormalities – azoospermia or oligospermia.
Clinically significant abnormal growth – short stature, excessive growth, microcephaly, macrocephaly.
Ambiguous genitalia.
Abnormal clinical phenotype or dysmorphism.
Congenital abnormalities.
Mental retardation or developmental delay.
Suspected deletion / microdeletion / duplication syndrome.
X-linked recessive disorder in a female.
Clinical features of a chromosome instability syndrome, including isolated haematologic findings monitoring after bone marrow transplantation.
Couples with Recurrent pregnancy losses (3 or more); stillbirths, or neonatal deaths where it is not possible to study the affected conceptus.
Child with chromosome abnormality or unusual variant.
Unexplained infertility.
Indications for testing of SRY Gene test (PCR) – to be run by Molecular Diagnostics Unit
Referral reasons Determination of newborn sex (ambiguous genitalia).
Assessing the presence or absence of SRY in patients with abnormal sexual differentiation.

SAMPLE COLLECTION

All samples sent to the Genetics Unit should be requested via appointment. Appointment can be done by contacting 04-562 2692. For non-urgent cases, samples can be sent on Monday and Tuesday. Samples for urgent cases to be sent on any working days and lab personnel have to be informed. Urgent samples are:

  • Patau Syndrome case (trisomy 13)
  • Edwards Syndrome case (trisomy 18)
  • Ambiguous Genitalia case

Request form, anticoagulant lithium heparin tube, transport media and EDTA tube will be provided by ADL.

The ADL Chromosomal Studies request form shall be complete and correctly filled with necessary information;

  1. 3.1Name.
  2. 3.2Identification number (IC or passport number).
  3. 3.3Sex.
  4. 3.4Date of birth (DOB).
  5. 3.5Date and time of specimen taken.
  6. 3.6Hospital and ward / clinic.
  7. 3.7Father’s and mother’s name and age.
  8. 3.8Family history.
  9. 3.9Patient investigation of unrecognized/suspected syndrome/sex abnormality.
  10. 3.10Name, signature and stamp of requesting Specialist or Medical Officer (after consultation with the Specialist).

Blood Cytogenetics, FISH and SRY gene:

  • 2.5 ml of blood is collected in lithium heparin tube. The blood should be mixed well to prevent clotting (mix by inversion 8 – 10 times).
  • For sub-standard samples, culturing may be attempted if repeat sampling would not be appropriate or possible as in case of death of the patient e.g
    • Sample clotted
    • Sample delayed for more than 5 days
    • Non-viable sample (lysed, frozen, fixed)
    • 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.

Bone Marrow Cytogenetics:

  • The transport media is supplied as frozen but should be thawed at room temperature before use.
  • At least 2 ml sample is needed from the first aspirate collected under sterile conditions. The sample should be mixed well to prevent clotting.
  • The sample should be transported in ice and accompanied by a complete and correctly filled genetic request form.

Note: Preparation of the test is very sensitive to the contamination. Make sure all the procedures are followed. Failure to follow the procedures will affect the result. We have the right to reject the samples.

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