Cytogenetics Brochure

 

Introduction

The Cytogenetics Laboratory at Fletcher Allen Health Care is a full service laboratory. Computerized chromosome analysis and fluorescence in situ hybridization (FISH) analysis are available for testing amniotic fluids, peripheral or cord bloods, bone marrows, solid tumor biopsies, fine needle aspirates and tissues (products of conception, fascia, skin). FISH analysis is a new technology using fluorescent dye labeled DNA probes to look for specific chromosome abnormalities, both structural and numerical. Examples of constitutional abnormalities that the laboratory has tested for include Williams Syndrome, DiGeorge Syndrome, Velo-CardioFacial Syndrome and Prader-Willi Syndrome. We have studied translocations and rearrangements of interest to oncologists such as Philadelphia chromosome, t(9;22) in CML or ALL, the t(15;17) in APL and the inv(l6) in AML. New probes are constantly being introduced to the market.

The staff consists of Technologists certified by the National Certification Agency in Cytogenetics. The Director, Mary E. Tang, MD, is board certified in Molecular Genetic Pathology by the American Board of Medical Genetics and the American Board of Pathology and holds a certificate of qualification in Cytogenetics from the New York State Department of Health. The laboratory is accredited by the College of American Pathologists and the New York State Department of Health.

Peripheral Blood AnalysisIndicators include:

Evaluation of a couple with recurrent miscarriage or infertility.
Evaluation of parents of an offspring with a chromosomal abnormality.
Evaluation of a child with congenital abnormalities and developmental delay.

Sample requirements: 1-7ml of sodium heparinized blood.

Turn around time: 7-12 days.
Preliminary reports for urgent cases may be available in 48 hours.

Cancer Cytogenetics AnalysisIndicators include:

Study of characteristic numerical and structural abnormalities of leukemias, Iymphomas and solid tumors.

Sample requirements: 1-5ml heparinized bone marrow tissue in culture media (supplied by our laboratory).

Turn around time: 10-14 days.

Amniotic Fluid AnalysisIndicators include:

Advanced maternal age.
Ultrasound diagnosis of a fetal anomaly.
Triple marker screen results (MS-AFP).
Previous child with a chromosomal abnormality

Sample requirement: 15-25ml amniotic fluid collected in tissue culture tubes (supplied by our laboratory).

Turn around time: 7-14 days.

Products of Conception/Stillbirth AnalysisIndicators include:

Recurrent miscarriage.
Fetal death.

Sample requirements: Fetal tissue is placed in a sterile tube containing HBSS (supplied by our laboratory).

Turn around time: 12-21 days.

Reporting of Results

Results are phoned or sent by fax. Final copies are mailed. Phone consultation is always available.
For further information, please e-mail Customer Service (802) 847-5121 or (800) 991-2799