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Genetics
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Molecular Diagnostics

WELCOME TO GENETICS

  • Introduction

    Genetics Unit offers diagnostic investigations in genetics.

    Genetics testing is divided into Cytogenetics and Molecular Cytogenetics. Cytogenetics is the study of the chromosome which includes analysis of G-banded chromosomes and other banding techniques. Molecular cytogenetics involves the combination of molecular biology and cytogenetics.

    • Abdul Rahman Bin Azhari
    • Nazlina Binti Mohamad Isa
    • Nur Atiqah Binti Ahmad
    • Nur Hidayah Binti Salim
    • Nordiyana Binti Ishak

  • Available Test and Indications

    1. Cytogenetics:
      1. Blood cytogenetics

    2. Molecular Cytogenetics (FISH):
      1. DiGeorge Syndrome microdeletion probe
      2. Prader-Willi/Angelman Syndromemicro deletion probe
      3. Williams Syndrome microdeletion probe

    Indications for cytogenetics test (karyotyping)

    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 fetus 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.
    linical 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.

  • Sample Collection

    1. All samples sent to the Genetics Unit should be requested via appointment. Appointment can be made by contacting 04-562 2692. For non-urgent cases, samples can be sent on Monday and Tuesday (Date scheduled by our site). 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

    2. The request form will be emailed upon request. Litium Heparin tube (for internal use only) will be provided by CDL upon request.

    3. The CDL Chromosomal Studies request form shall be complete and correctly filled with necessary information:
      1. Name (Patient)
      2. Identification number (IC or passport number)
      3. Sex
      4. Date of birth (DOB)
      5. Date and time of specimen taken
      6. Hospital and ward or clinic
      7. Father’s and mother’s name and age
      8. Family history and pedigree
      9. Patient investigation of unrecognized/suspected syndrome or sex abnormality
      10. Name, signature and stamp of requesting Specialist or Medical Officer (after consultation with the Specialist)

    4. Blood Cytogenetics and FISH:
      1. 2.5 ml to 4 ml of blood is collected in lithium heparin tube. The blood should be mixed well to prevent clotting (mix by inversion 8 - 10 times).
      2. 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 48 hours
        • Non-viable sample (lysed, frozen, fixed)
        • The blood should be transported on ice (make sure not to freeze the blood) and accompanied by a complete and correctly filled request form and proof of payment.
        • The requests must include complete patient information, diagnosis, pedigree and detailed clinical features.

    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.

     

  • Sample Transportation

    All samples should be sent to the Genetics Unit as soon as possible (before 3 pm) on the day of appointment. All blood specimens should be sent to the laboratory within 24 hours of collection. If there is an unavoidable delay between the collection of the sample and dispatch, the blood can be stored in a refrigerator at 2 - 8 °C. It is the responsibility of the requesting staff to ensure that samples arrive at the laboratory in suitable condition. Samples should be transported on ice without freezing.

  • Acceptance Criteria for Additional Test

    1. Request should be made by the requesting / treating doctor.
    2. Additional test criteria (have to informed lab and followed by formal request).
    3. Additional test such as FISH can be requested later within 1 week of sample received but limited to available FISH probe and sample.
    4. Additional test will be charged separately.

  • Turn Around Time (TAT)

    ProfileCaseTurn Around Time
    Profile: Blood cytogenetics
    Case:

    Urgent cases for cytogenetic
    Non-urgent cases for cytogenetic / FISH
    Turn Around Time:

    Within 14 days from the date sample is received
    Within 28 days from the date sample is received
    Profile: Blood cytogenetics
    Case:

    Cases that need second opinion* and further additional investigation
    Turn Around Time:

    Within 40 days from the date sample is received

    *Cases that need second opinion will be sent to Pusat Genom Manusia, Pusat Pengajian Sains Perubatan, Kampus Kesihatan, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan.

    Final results will be issued when chromosome analysis is completed and validated by pathologist. Reports include a karyotype (latest ISCN guideline) where appropriate and clinically relevant interpretative comment. All reports will be emailed to the requesting hospital / clinic / ward based on the email address provided.

  • Contact Us

    Genetic Unit,
    Clinical Diagnostic Laboratory (CDL),
    USM Bertam Medical Centre,
    Universiti Sains Malaysia,
    13200 Kepala Batas,
    Pulau Pinang.
    AMDI Operator: 04-562 2888
    Direct line: 04-562 2692

    Operating Hours:

    Monday - Thursday
    8.10 am - 1.00 pm
    2.00 pm - 5.10 pm

    Friday
    8.10 am - 12.15 pm
    2.45 pm - 5.10 pm

    Saturday, Sunday and Public Holiday : CLOSE