Blood for Cytogenetic Test
Table of Contents
The cytogenetic assay is useful for chromosome analysis, syndromes like Williams, Prader-Willi, Angelman, Miller-Dieke, Smith-Magenis, and DiGeorge, and hematological malignancies detection.
| Test Method | Application |
| Karyotyping | chromosome analysis e.g. neonatal Karyotyping, Product of Conception (POC) karyotyping |
| Fluorescent In Situ Hybridization (FISH) | Hematological Malignancies |
| FISH for Syndromes | Syndromes like Williams Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, and DiGeorge |
| Telomere PNA FISH | For the detection of human telomere sequences |
| Test | Specimen |
| Karyotype | Whole 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 FISH | Whole blood: 4 ml in a VACUTAINER® CPT™ |
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