Tests and Services We Provide - CytoLabs

Tests and Services We Provide

The development of cytogenetics in the late 1950's, that later allowed chromosomes to be correctly identified, led to the discovery that many cell lines used around the world were contaminated.  Though cross-species contamination is much more easily identified intra-species contamination also occurs.  HeLa cell contamination is the most well-known; infiltrating cell cultures all over the world.  Cell line contamination can be identified by various methods including isoenzyme patterns, iso-electric focusing, DNA finger printing and chromosome analysis.  Chromosome analysis has been recognized as the most efficient way of identifying cell contamination.  It has been recommended that only cytogenetically identified cell lines from the commercial repositories be used (Hareesh et al 2013).  A careful and experienced cytogeneticist, who is familiar with banded chromosomes of most mammalian species and disease/tissue specific cell lines, is required to perform these tests effectively (Pathak 2007).  At Cyto Labs we have the experience, training and skills to perform such tests for you.

Prenatal Samples

Tissue Types

  • Product of Conception (POC)
  • Amniotic Fluids (AF)
  • Cord Blood (PUBS)


  • Advanced maternal age (35 years +)
  • Previous abnormal baby
  • Previous spontaneous abortion
  • Previous still-birth without medical cause
  • Family history of chromosomal abnormality
  • Abnormal fetus on ultrasound
  • Sex-linked disorders
  • Increased nuchal translucency
  • Choriod plexus cysts
  • Aneuscreen FISH
  • High Risk After NIPT

Uses of cytogenetics in prenatal diagnosis:

Cytogenetics may be used in conjunction with ultrasound observations to determine the state of the (usually) second trimester fetus. The purpose of these studies is to allow better patient management. In some cases the results may reassure the parents that the pregnancy is proceeding normally. In other cases cytogenetic results support an observation of adverse ultrasound, allowing the parents the opportunity to make informed decisions regarding the pregnancy and prepare them for the future.

Constitutional Studies

Tissue Types

  • Peripheral blood
  • Skin biopsy
  • Muscle biopsy


  • Down syndrome
  • Edward syndrome
  • Patau syndrome
  • Congenital abnormalities in neonates
  • Delayed developmental milestones (physical, mental or both)
  • Cri Du Chat syndrome
  • Wolf-Hirshorn syndrome
  • Beckwith-Wiederman syndrome
  • Fragility syndromes including Blooms, Fanconi Anaemia
  • Delayed secondary sexual development
  • Infertility
  • Primary, or secondary Amenorrhea
  • Recurrent miscarriage
  • Family history of abnormal births and/or spontaneous miscarriage
  • Investigation of marker chromosomes including inv dup(15), Cat eye syndrome, Pallister-Killian syndrome
  • Chromosomal mosaicism and effects on phenotype
  • Microdeletion syndromes including:
    • PraderWilli/Angelmann syndrome
    • Chromosome 22q11.2 including VeloCardioFacial syndrome, CATCH 22, DiGeorge syndrome
    • Greig syndrome
    • Williams syndrome
    • Smith-Magenis syndrome
    • Miller-Dieker syndrome

Uses of cytogenetics in constitutional studies

Cytogenetics may provide an explanation for a particular patient condition; it may confirm a clinical diagnosis; it may be able to suggest prognosis for treatment and longer term patient management.

Leukaemia Cytogenetics

Tissue Types

  • Bone marrow
  • Peripheral blood
  • Lymphoma biopsy


  • Acute Myeloid Leukaemia (AML)
  • Acute Lymphoid Leukaemia (ALL)
  • Chronic Myeloid Leukaemia (CML or CGL)
  • Myelodysplasia (MDS)
  • Myeloproliferative Disorders (MPD)
  • Chronic Lymphoid Leukaemia (CLL)
  • Lymphoma
  • Myeloma
  • (Unexplained) anaemia
  • Myelofibrosis
  • Pancytopenia

Uses of cytogenetics in Leukaemic conditions

  • Initial, or confirmation of, clinical diagnosis
  • Monitoring remission, and/or effects of treatment
  • Identification of minimal residual disease
  • Early detection of relapse

Spontaneous Miscarriage

Tissue types

  • Tissue samples of the extra-embryonic membranes from the aborted material


  • Karyotype of the tissue
  • FISH for specific chromosomal sites

Uses of cytogenetic investigations in spontaneous miscarriage

  • Determination of the cytogenetic complement of a conceptus to identify chromosomal errors
  • Detection of familial “at risk” couples
  • Determination of recurrence risk for the next pregnancy
  • Reduce parental anxiety by providing explanations for fetal demise

Animal Testing

Tissue Types

  • Mouse
  • Cattle
  • Horse
  • Dog
  • Lizard
  • Any other animal you want karyotyped we can help

Non-Cytogenetics Testing

With more than 20 years experience in pathology testing, we have an extensive circle of contacts for referral of non-cytogenetics tests. Our ability to choose the organisation with the best expertise enables us to extend our own services to clients. We can offer additional test facilities, maintain a high quality product, and retain the flexibility to change supplier if the service does not meet our criteria.