All Notes

Cytogenetic Test: Introduction, List of Common Tests, Specimen Requirements, and Keynotes

Introduction of Cytogenetic Test

The cytogenetic assay is useful for chromosome analysis, syndromes like Williams, Prader-Willi, Angelman, Miller-Dieke, Smith-Magenis, and DiGeorge, and hematological malignancies detection.

List of Common Tests

Test Method Application
Karyotypingchromosome analysis e.g. neonatal Karyotyping, Product of Conception (POC) karyotyping
Fluorescent In
Situ Hybridization (FISH)
Hematological
Malignancies
FISH for SyndromesSyndromes like Williams Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, and DiGeorge
Telomere PNA FISHFor the detection of human telomere sequences
Table: List of Cytogenetic Tests and their detection methods

Test Wise Specimen for Cytogenetics

Test Specimen
KaryotypeWhole blood: One heparinized green top,5-7 ml
Bone Marrow: One heparinized green top, 2-2.5 ml
Amniotic fluid: 18-20 ml
Chorionic villus specimen: sample in tissue culture media
Skin or other tissue: sample in saline or other preservative-free media
FISH for the following syndromes-
1. Williams
2. Prader-Willi
3. Angelman
4. Miller-Dieker
5. Smith-Magenis
6. DiGeorge
Whole blood: One heparinized green top, 5-7 ml
FISH for Hematological
Malignancies
Whole blood: One heparinized green top, 5-7 ml
Bone Marrow: One heparinized green top, 2-2.5 ml
Telomeric FISHWhole blood: 4 ml in a VACUTAINER® CPT™
Table: Cytogenetic assays and their specimens

Blood for Cytogenetic Test

Fig. Blood for Cytogenetic Test

Keynotes on Cytogenetic Test

  • All the cytogenetic specimens/serum samples are to be refrigerated if immediate delivery is not possible.
  • FISH is never a stand-alone test and thus chromosomes must be done along with FISH or prior to it.
  • CPT stands for Cell Preparation Tubes.
  • If the FISH test is ordered at the same time as chromosomes, one green-top tube of the appropriate amount is sufficient for both tests.
  • The volume of specimen for karyotyping should be low for the child and infant i.e. 3 ml and 2-2.5 ml blood respectively.
  • Quantitative fluorescence in situ hybridization (FISH) of telomere repeats has been used to calculate telomere length.

Medical Lab Notes

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