upmc   PITTSBURGH CYTOGENETICS LABORATORY

 

LABORATORY SERVICES

 

POSTNATAL CHROMOSOME TESTING

Chromosome analysis involves the culturing of living cells. The harvested metaphase cells are stained (G-banding) and viewed under the microscope for numeric and structural abnormalities. The resolution for chromosome analysis is about 5-10Mb. The turnaround time is subject to growth variables and complexity of analysis. Results are generally available in approximately 2-4 weeks. Preliminary results on STAT cases to rule out trisomy are available in 48 hrs and are finalized within 7 days. Microscopic examination of both chromosome number and structure is performed. Analysis of 20 metaphases is routinely performed and additional metaphases will be studied when indicated. Two or more G-banded karyograms are created by computer image analysis on each patient.

Click to zoomTYPES OF BLOOD TESTS

CHROMOSOME ANALYSIS IN THE FIRST LINE TEST FOR THE FOLLOWING CONDITIONS:

SPECIMEN REQUIREMENTS

POSTNATAL AND ADULT KARYOTYPING AND FISH
Specimen Types Requirements Turnaround times
Peripheral Blood 1green top tube (1 x NaHep) containing 5 cc whole blood 2-4 weeks for routine cases;

48 hr. verbal preliminary results on STAT analyses; 7 day final report on STAT analyses.
For infant or young children:
1 green top tube (1 x NaHep ) containing 1-3 cc whole blood 


If CGH testing is anticipated later 1 purple top tube  (1 x EDTA vacutainer) containing 5cc whole blood is requested

POSTNATAL AND ADULT (CGH or CGH+SNP, FISH and KARYOTYPING)
Specimen Types Requirements Turnaround times
Peripheral Blood 1 green top tube (1 x NaHep) and one purple top tube (1XEDTA) , each containing 5 cc whole blood

For infant or young children:
1 green top tube (1 x NaHep) and one purple top tube (1XEDTA) , each containing -1-3 cc whole blood

 

 

SPECIMEN REQUIREMENTS (PDF TABLE)

CONSITUTIONAL STUDY REQUISITION FORM (PDF TABLE)

ADVANTAGES AND LIMITATIONS