Cytogenetics

The Cytogenetics Laboratory specializes in routine and high-resolution chromosome analysis of various tissues and diagnosis of cytogenetic disorders by fluorescence in situ hybridization (FISH) and comparative genome hybridization array. FISH has been used to reliably detect microdeletions in human chromosomes which cause specific genetic disorders, abnormalities of chromosome number in prenatal specimens, and chromosome rearrangements characteristic of certain hematologic malignancies. Each conventional cytogenetic and FISH test receives expert interpretation by a board-certified clinical cytogeneticist.

Oligonucleotide Array CGH or Array-based Comparative Genomic Hybridization is a new technology that evaluates all chromosomes for aneuploidy, deletions and duplications in one assay. It is a screening test for patients with unexplained developmental delay/mental retardation, autism spectrum disorders, dysmorphic features and/or multiple congenital anomalies. Chromosomal Microarray Analysis does not detect balanced chromosome rearrangements or DNA sequence alterations. Therefore it does not replace chromosome karyotyping or DNA sequencing which remain important tools in clinical diagnosis.

Current research efforts in the Cytogenetics Laboratory emphasize the development of new applications for array technology for leukemia and other hematologic malignancies.

For available tests, view the Test Directory.

Laboratory Certification

The laboratory is accredited by the College of American Pathologists (CAP) and certified by the Department of Health & Human Services Clinical Laboratory Improvement Amendments (CLIA). The laboratory technical staff members are certified by the American Society for Clinical Pathology in Cytogenetics [CG(ASCP)]. The Laboratory Director is certified in Clinical Cytogenetics by the American Board of Medical Genetics.

CAP # 20502-01
CLIA # 37D0474681
CA State License #C0500800312

Professional Staff

Cytogenetics Laboratory Director:
Nancy J. Carpenter, Ph.D., FACMG
Diplomate of the American Board of Medical Genetics in Clinical Cytogenetics, Clinical Molecular Genetics and Medical Genetics

Reporting

  • The laboratory director reviews and provides interpretation for all cases.
  • All written reports are sent to the referring physician, hospital laboratory &/or genetic counselor by mail and/or by FAX upon request.
  • All written reports for conventional cytogenetic analyses are accompanied by a print of the karyotype. Color prints are available upon request for FISH analysis.
  • All abnormal results are telephoned to the referring physician or genetic counselor by the laboratory director who is available to discuss each case as needed.
  • Preliminary verbal reports are available upon request by referring physicians or genetic counselors.