Beth Israel Deaconess Medical Center
Laboratory Manual

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CYTOGENETICS
 Director:  Sibel Kantarci, PhD  617-667-3648
 Clinical Manager:  Karen Eichelberger, MT(ASCP)
  617-667-4946
 Clinical Supervisor:  Melissa Gorman, CLSp(CG)  617-667-1457

The Cytogenetics Service provides chromosome analysis for amniotic fluid, chorionic villus, blood, bone marrow and tissue specimens. In addition, the laboratory establishes cultures of cells from patients for metabolic, biochemical or other genetic testing. This testing is coordinated through the Clinical Genetics Office at 617-667-7110. A laboratory director is available by page (617-732-5700 pager 13125).

Conventional chromosome analysis requires the examination of actively dividing cells. Therefore, specimens must be collected using aseptic technique and transported to the laboratory under conditions that will preserve the viability of the cells. Some specimens (see other sections of the laboratory manual) require transport media, which is available from the Cytogenetics section or Microbiology. A variety of tests are available using fluorescence in situ hybridization (FISH) that may be performed on metaphase or interphase cells.
 

CLINICAL INDICATIONS FOR CHROMOSOME ANALYSIS
Abnormalities of Growth and Development

Indications include developmental delay, mental retardation, multiple congenital anomalies, ambiguous genitalia, stillbirth and neonatal death.
Family History

Indications include family history of chromosome rearrangements, mental retardation, and dysmorphism.
Fertility Problems

Indications include recurrent miscarriage (both partners should have chromosome analysis), infertility, and premature ovarian failure.
Prenatal Risk

Indications include advanced maternal age (>35 years at time of delivery),
increased risk by prenatal maternal serum screening, abnormal fetal ultrasound
findings, known chromosome rearrangement in parent, and history of a
previous child with chromosome aberrations or multiple congenital anomalies.
 Hematologic Malignancies

Indications include ALL, CLL, AML, CML, multiple myeloma and lymphoma.  Cytogenetic analysis of bone marrow specimens may be used at time of
initial diagnosis and to monitor disease.

The laboratory should be informed of the suspected diagnosis and/or specific indication for the testing. Results of Cytogenetic testing may be viewed through the Clinical Information system. The results of amniotic fluid and chorionic villus samples are called to the requesting physician’s office as soon as available.

Revised/reviewed 01/03/2008

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