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CYTOGENETICS TESTS

CONVENTIONAL CYTOGENETIC ANALYSIS (KARYOTYPING) BONE MARROW

1

Ordering recommendation
  • Conventional Cytogenetic Analysis, also known as karyotyping, is a crucial diagnostic tool used to examine the number and structure of chromosomes in cells. 
  • When to Order:
    • For diagnosing and managing hematologic malignancies, such as leukemia and lymphoma, as well as other bone marrow disorders.

2

Accreditation status (MS ISO 15189)
  • Yes

3

Submit with order

4

Specimens required

Collect
  •  Transport media tube provided by Human Genome Centre

Specimen preparation
  •  2-3 mL of second bone marrow aspirate is required

 Storage/Transport temperature
  •  Keep the sample in ice packing if delivery takes more than 24 hours to Human Genome Centre

5

Methodology
  •  Conventional cytogenetic analysis

6

Turnaround time (TAT)
  •  21 days

7

Shipping instruction
  •  Sample should be sent to: Human Genome Centre (HGC), School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan
CONVENTIONAL CYTOGENETIC ANALYSIS (KARYOTYPING) PERIPHERAL BLOOD

1

Ordering recommendation
  • Conventional Cytogenetic Analysis, or karyotyping, is a diagnostic procedure used to evaluate the number and structure of chromosomes in cells. 

  • When to order:

    • Suspected Genetic Disorders
    • Hematologic Conditions (Leukemic Blood)
    • Infertility and Recurrent Pregnancy Loss
    • Pre-conception and Prenatal Screening
    • Ambiguous genitalia to determine genetic sex

2

Accreditation status (MS ISO 15189)
  • Yes

3

Submit with order

 

 

 

4

 

 

 

Specimens required

       Collect
  • Sodium heparin tube

     Specimen preparation
  • One tube of 2-3 mL (adult) or 1-2 mL (neonate) blood

      Storage/Transport temperature
  • Keep the sample in ice packing if delivery takes more than 24 hours to Human Genome Centre

5

Methodology
  • Conventional cytogenetic analysis

6

Turnaround time (TAT)
  • 28 days

7

Shipping instruction
  • Sample should be sent to: Human Genome Centre (HGC), School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, kelantan
CHROMOSOME BREAKAGE ANALYSIS

1

Ordering recommendation
  • The Chromosome Breakage Test is a specialized cytogenetic analysis used to detect and evaluate chromosomal instability and repair mechanisms. 

  • When to order:

    • Suspected Chromosomal Breakage Syndromes such as Fanconi Anemia and Ataxia Telangiectasi

2

Accreditation status (MS ISO 15189)
  • No

3

Submit with order

 

 

4

 

 

 

Specimens required

         Collect
  • Sodium heparin tube

         Specimen preparation
  • 2 tubes of 2-3 mL blood each for patient & healthy control
  • **Healthy control must be same sex and age (+/-2 years) with the patient

         Storage/Transport temperature
  • Keep the sample in ice packing if delivery takes more than 24 hours to Human Genome Centre

5

Methodology
  • Conventional cytogenetic analysis

6

Turnaround time (TAT)
  • N/A                                  

7

Shipping instruction
  • Sample should be sent to:  Human Genome Centre (HGC), School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, kelantan
MOLECULAR CYTOGENETIC ANALYSIS (FISH) BONE MARROW

1

Ordering recommendation
  • Fluorescence In Situ Hybridization (FISH) is a molecular cytogenetic analysis technique used to detect and localize specific DNA sequences on chromosomes. This analysis is essential for identifying suspected chromosomal abnormalities and guiding treatment decisions.
  • List of FISH probes available in Human Genome Centre:

        WHOLE CHROMOSOME PAINTING (WCP)

       

  • MULTIPLE MYELOMA PANEL PROBES (MM)
  •          del(13) 13q14.3 deletion probe with 13qter Subtelomere Specific Probe
  •          t(4;14)(p16;q32) IGH/FGFR3 Translocation Dual Fusion Probe
  •          t(14;16)(q32;q23) IGH/MAF Plus Translocation, Dual Fusion Probe
  •          t(11;14)(q13;q32) IGH/CCDN1 Translocation, Dual Fusion Probe
  •          del(17) (p13) P53 Deletion.
  • ACUTE MYELOID LEUKEMIA (AML)
  •          inv(16)(p13q22) CBFβ/MYH11 Translocation, Dual Fusion
  •         t(8;21)(q21;q22) AML1/ETO Translocation Probe Dual Fusion
  •          t(15;17)(q24;q21) PML/RARα Translocation Dual Fusion
  • ACUTE LYMPHOBLASTIC LEUKEMIA (ALL)
  •           t(12;21)(p12;q22) ETV6/RUNX1  Translocation, Dual Fusion
  •           KMT2A (11q23.3) Break Apart probe
  • CHRONIC MYELOID LEUKEMIA (CML)
  •           t(9;22)(q34;q11) BCR/ABL Dual Fusion Translocation Probe
  • CHRONIC LYMPHOCYTIC LEUKEMIA (CLL)/FOLLICULAR LYMPHOMA
  •          t(14;18)(q32;q21) IGH/BCL2 Translocation Dual Fusion
  •           t(8;14)(q24;q32) IGH/cMYC Translocation Dual Fusion
  • MYELODYSPLASTIC SYNDROME (MDS)
  •          5q Deletion XL 5q31/5q33

2

Accreditation status

(MS ISO 15189)
  • Yes

3

Submit with order

4

Specimens required

Collect
  • Transport media tube provided by Human Genome Centre

 

Specimen preparation
  • 2-3 mL of second bone marrow aspirate is required

Storage/Transport temperature
  • Keep the sample in ice packing if delivery takes more than 24 hours to Human Genome Centre

5

Methodology
  • Fluorescence in situ hybridization

6

Turnaround time (TAT)
  • 14 days

7

Shipping instruction
  • Sample should be sent to:  Human Genome Centre (HGC), School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan
MOLECULAR CYTOGENETIC ANALYSIS (FISH) PERIPHERAL BLOOD
  • 1

Ordering recommendation
  • Fluorescence In Situ Hybridization (FISH) is a molecular cytogenetic analysis technique used to detect and localize specific DNA sequences on chromosomes. This analysis is essential for identifying suspected chromosomal abnormalities and guiding treatment decisions.
  • List of FISH probes available in Human Genome Centre:

     WHOLE CHROMOSOME PAINTING (WCP)

      

    CHROMOSOME MICRODELETION PROBES

  •     Di-George VCFS N25 and 22q13.3 deletion Probe Combination
  •     William Beuren 7q11.23 Probe Wiliam Beuren Syndrome D7Z1
  •      Cri-Du-Chat / SOTOS 5p15 Probe Combination

    ANEUSCORE XA 13/18/21 (FOR COMMON TRIPLOIDIES)

  • XA 13q14
  • XA 18q21
  • XA 21q22

        OTHERS

  • SRY probe/DXZ1/DYZ1

2

Accreditation status (MS ISO 15189)
  • Yes

3

Submit with order

 4

Specimens required

         Collect
  • Sodium heparin tube

         Specimen preparation
  • One tube of 2-3 mL (adult) or 1-2 mL (neonate) blood

         Storage/Transport temperature
  • Keep the sample in ice packing if delivery takes more than 24 hours to Human Genome Centre

5

Methodology
  • Fluorescence in situ hybridization

6

Turnaround time (TAT)
  • 14 days

7

Shipping instruction
  • Sample should be sent to:  Human Genome Centre (HGC), School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan
MOLECULAR CYTOGENETIC ANALYSIS (FISH) TISSUE (TISH)

1

Ordering recommendation
  • Fluorescence In Situ Hybridization (FISH) for HER2 is a molecular cytogenetic analysis technique used to evaluate HER2 gene amplification in breast cancer tissues. Accurate detection of HER2 amplification helps guide treatment decisions, determine the benefit of use of targeted therapies.

2

Accreditation status (MS ISO 15189)
  • No

3

Submit with order

4

 

 

 

Specimens required

         Collect
  • NA

         Specimen preparation
  • 3-4 unstained slides and 1 H&E-stained slides (control)
  • At least 2 tumour areas need to be marked on H&E-stained slides

         Storage/Transport temperature
  • Keep slides in the slide box

5

Methodology
  • Fluorescence in situ hybridization

6

Turnaround time (TAT)
  • 28 days

7

Shipping instruction
  • Sample should be sent to: Human Genome Centre (HGC), School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan

HUMAN GENOME CENTRE

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