Chromosomal Diagnosis Back

Cytogenetic Services for Patient Referrals

Chromosomal abnormalities are major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding continuation of pregnancy.

Our state-of-the-art laboratory offers cytogenetic services in a variety of samples with the application of differential chromosome banding techniques and automated image analysis system for karyotyping, FISH (fluorescence in situ hybridization) as well as Molecular Genetic tests like PCR (Polymerase Chain Reaction) for Y chromosome microdeletions.


  • Dysmorphic features/Congenital malformations
  • Syndromic and non-syndromic birth defects
  • Trisomy/monosomy syndromes (eg. Down syndrome, Edwards syndrome, Patausyndrome, Klinefeltersyndrome, Turner 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
  • Infertility
  • Mental retardation
  • Recurrent miscarriages
  • Primary amenorrhoea
  • Poor gonadal development/atropic gonads
  • Premature menopause/premature ovarian failure
  • Chromosome instability syndromes
  • Contiguous gene syndromes
    • Prader-Willi/Angelman syndrome
    • Williams syndrome
    • DiGeorge syndrome
  • Haematological malignancies
  • Solid tumors
  • Prenatal testing in case where there is
    • Prior affected child
    • Maternal age factor
    • Change in routine ultrasound pattern
  • Products of Conception

Y Chromosome Microdeletions
Associated with severe male factor infertility.

Cytogenetic Services for Cell Lines
Karyotyping for human stem cell lines, primary cell lines and cancer cell lines used for research purposes.

Nature of sample and requirements

From peripheral blood
2-3 ml heparinised blood (green cap vacutainers)
From bone/marrow leukemic blood

2-3 ml heparinised bone marrow/peripheral blood (peripheral blood is desirable only if blast cells are present)
Products of conception-Properly washed in normal saline
From prenatal samples

Amniotic fluid
20-30 ml amniotic fluid in sterile centrifuge tubes
Fetal cord blood
1-2 ml heparinised fetal cord blood

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.

Cell lines– Live cells with a confluency of 70% in duplicates of cell culture flasks. [Please contact us before dispatch of the celllines]

Y Chromosome Microdeletion Analysis
4-5 ml EDTA blood (purple cap vacutainers)

Chromosome diagnostic services- Charges (Inclusive of 15% Service Tax)

Cost of chromosome-based diagnostic services/sample
Peripheral blood : Rs 2000/-
Fetal cord blood : Rs 3000/-
Other prenatal samples : Rs 4500/-
Fluorescence based chromosome analysis
Conventional probesn (whole chromosome paint) : Rs 6000/-
Locus Specific Probes : Rs 6000/-
Multicolor, aneuvysion, etc : Rs 5500/-
*Products of Conception : Rs 6000/-
Y chromosome microdeletion analysis (AZFa, AZFb and AZFc) : Rs 4500/-
Cell lines
Species Specific cultures : Rs 30000/-
Primary & Established cultures : Rs 18000/-
Stem Cell cultures : Rs 25000/-

[*Charges of the test can be paid after completion of analysis as communicated with the patient before the final chromosome analysis report is handed over to the patient]

Note: Charges of the tests would change accordingly with variation in the service tax.

Reporting time

  • 2-3 weeks for blood samples.
  • 3-4 weeks for prenatal and products of conception samples

Transport of samples

The samples should reach us within 24-48 hrs in cold conditions (packed with ice or cool packs). Samples received within 24 hrs are good because the viability of the cells is lost when the sample is sent late which affects the quality of chromosomes. CYTOGENETIC ANALYSIS IS NOT POSSIBLE IN FROZEN SAMPLES.


Dr Lakshmi Rao Kandukuri, PhD
Principal Scientist,
FF-20, Medical Biotechnology Complex
Centre for Cellular and Molecular Biology (CCMB) Annex-II
Council of Scientific and Industrial Research (CSIR)
Uppal Road, Hyderabad 500 007. INDIA
Tel: 00-91-40-27195 548 (Off) 00-91-40-27195 551 (Lab) 00-91-40-27195 568 (Microscopy)
Mobile: 9177731133
Fax: 00-91-40-2716 0591, 2716 0311

Last updated: 05-07-2017

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