Cytogenetics Samples

Cytogenetics samples – Techniques are gaining in power and usefulness with the development of new detection methods utilizing computer technology and molecular tools in the past two decades. The availability of molecular tools has expanded the resolution and capability of cytogenetic analysis. With discovery of genetic changes in various genetic disorders in the recent years, new developments in molecular cytogenetics provide high‐resolution view of specific genomic regions and facilitate rapid clinical diagnosis.

The CIMAR cytogenetics facility accepts a variety of samples for karyotyping, FISH as well as  polymerase chain reaction (PCR) for Y chromosome microdeletions.


Indications for referring for these services include (but not limited to)

  • Dysmorphic features/Congenital malformations.
  • Syndromic and non-syndromic birth defects.
  • Trisomy/monosomy syndromes (eg. Down’s syndrome, Edward’s syndrome, Patau’s syndrome, Klinefelter’s syndrome, Turner’s syndrome).
  • Delayed developmental milestones/growth retardation.
  • Overgrowth syndromes.
  • Abnormal developmental of the genitalia/ambiguous genitalia.
  • Delayed puberty/lack or late onset of secondary sexual characters.
  • Mental retardation.
  • Recurrent miscarriages.
  • Primary amenorrhoea.
  • Poor gonadal development/atropic gonads.
  • Premature menopause/premature ovarian failure.
  • Chromosome instability syndromes.
  • Contiguous gene syndromes.
  • DiGeorge syndrome.
  • Prenatal testing in case where there is a.) Prior affected child, b.) Maternal age factor, c.) Change in routine ultrasound pattern.
  • Products of Conception.
  • Y Chromosome Microdeletions associated with severe male factor infertility.


Nature of sample and requirements

  • From peripheral blood:2-3 ml heparinised blood (green cap vacutainers).
  • Products of conception-Properly washed in normal saline.
  • From prenatal samples.
  • Amniotic fluid:15-20 ml amniotic fluid in sterile centrifuge tubes.
  • Fetal cord blood :1-2 ml heparinised fetal cord blood.
  • Y Chromosome Microdeletion Analysis : 4-5 ml EDTA blood (purple cap vacutainers).

Fetal tissue sampling should be done under sterile conditions and samples should be transported in sterile tissue culture media.

Cytogenetic analysis is not possible in formalin fixed samples.

Abnormal Puberty

Puberty is the period of growth that bridges childhood to adulthood and results in physical and sexual maturity as well as the capacity for reproduction. Significant pathology can result in both advanced ……

Prenatal Diagnosis

There may be unpleasant outcome for the fetus or the mother or both, if the couple had not done the prenatal diagnosis. Congenital anomalies account for 20 to 25% of perinatal deaths. Prenatal ….


This test can detect loss or gain of material in any region of any chromosome as well as both balanced and unbalanced structural rearrangements such as translocations and inversions.


For male infertility, screening tool like Sperm FISH is used for counseling couples with male factor infertility. The analysis can also be undertaken as a rapid investigation for whole chromosome …….

Chromosome Abnormalities

Half of the first-trimester miscarriages are caused by fetal chromosome abnormalities diagnosed by conventional techniques. Techniques such as chromosomal comparative genomic ……..


Chromosomal abnormalities can happen in any cell in the body when egg and sperm cells are being made, during early fetal development, or after birth. A routine cytogenetic analysis involves ……

Cytogenetics Samples

The availability of molecular tools has expanded the resolution and capability of cytogenetic analysis. The CIMAR cytogenetics facility accepts a variety of samples for karyotyping, FISH as well as ……..

Genetic Disorders

Genetic disorders of the sex chromosome (like disorders of the autosomes) can be either numerical or structural, and can be present in all cells or in a mosaic form. Samples can be referred for a wide ……..

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