Technology
The Cytogenetics Laboratory at Beth Israel Deaconess Medical Center utilizes advanced cytogenetic and genomic technologies to detect chromosomal abnormalities across a wide range of clinical applications, including hematologic malignancies, solid tumors, and constitutional disorders. Our laboratory integrates conventional cytogenetics with molecular and automated imaging platforms to provide accurate, high-resolution, and clinically actionable results.
Clinical Applications
The Cytogenetics Laboratory supports a broad range of clinical applications across hematologic malignancies, solid tumors, and constitutional genetic disorders, providing essential diagnostic, prognostic, and genomic insights.
Conventional Cytogenetics (Karyotyping)
High-resolution chromosome analysis (karyotyping) remains a cornerstone of cytogenetic diagnostics. We perform G-banded chromosome analysis to identify structural and numerical chromosomal abnormalities, including translocations, deletions, duplications, and aneuploidy.
Our laboratory incorporates advanced digital imaging and automated analysis systems to enhance accuracy, efficiency, and reproducibility in karyotype interpretation.
Fluorescence In Situ Hybridization (FISH)
Fluorescence in situ hybridization (FISH) enables targeted detection of specific chromosomal abnormalities at high sensitivity and resolution. We offer a comprehensive range of FISH assays for both hematologic malignancies and solid tumors, including probes for diagnostic, prognostic, and therapeutic markers.
The laboratory maintains an extensive and continuously expanding test menu, including over one hundred validated FISH probes covering a broad spectrum of hematologic and solid tumor applications.
FISH testing is performed on a variety of specimen types and is integrated with cytogenetic and molecular findings to support clinical decision-making.
Chromosomal Microarray Analysis (CMA)
Chromosomal microarray analysis (CMA) provides genome-wide assessment of copy number variations and regions of homozygosity. This technology enables detection of submicroscopic chromosomal abnormalities not identifiable by conventional karyotyping.
CMA is utilized for constitutional genetic disorders, as well as selected oncology applications, providing high-resolution genomic insight into disease etiology.
Automated Imaging and Analysis (MetaSystems)
The laboratory is implementing advanced automated imaging and analysis platforms from MetaSystems to support both karyotyping and FISH analysis. These systems enable high-throughput image acquisition, automated metaphase detection, and enhanced visualization of chromosomal abnormalities.
Integration of automated image analysis improves workflow efficiency, standardization, and diagnostic accuracy, while allowing expert review and interpretation by laboratory directors.
Integrated Cytogenetic and Genomic Analysis
All testing modalities are interpreted in an integrated manner, combining karyotyping, FISH, and microarray data to provide comprehensive diagnostic insights. Laboratory directors collaborate closely in the interpretation and sign-out of cases to ensure accurate, clinically meaningful reporting across the full spectrum of cytogenetic testing.
The Cytogenetics Laboratory at Beth Israel Deaconess Medical Center utilizes advanced cytogenetic and genomic technologies to detect chromosomal abnormalities across a wide range of clinical applications, including hematologic malignancies, solid tumors, and constitutional disorders. Our laboratory integrates conventional cytogenetics with molecular and automated imaging platforms to provide accurate, high-resolution, and clinically actionable results.
Clinical Applications
The Cytogenetics Laboratory supports a broad range of clinical applications across hematologic malignancies, solid tumors, and constitutional genetic disorders, providing essential diagnostic, prognostic, and genomic insights.
- Hematologic malignancies: Cytogenetic evaluation of leukemias, lymphomas, and plasma cell neoplasms for diagnosis, risk stratification, and disease monitoring
- Solid tumors: Chromosomal and genomic analysis of solid tumors, including brain tumors, soft tissue tumors, and other neoplasms, to support diagnostic classification and therapeutic decision-making
- Constitutional genetic disorders: Evaluation of congenital abnormalities, developmental disorders, and prenatal and postnatal indications through chromosome analysis and microarray testing
Conventional Cytogenetics (Karyotyping)
High-resolution chromosome analysis (karyotyping) remains a cornerstone of cytogenetic diagnostics. We perform G-banded chromosome analysis to identify structural and numerical chromosomal abnormalities, including translocations, deletions, duplications, and aneuploidy.
Our laboratory incorporates advanced digital imaging and automated analysis systems to enhance accuracy, efficiency, and reproducibility in karyotype interpretation.
Fluorescence In Situ Hybridization (FISH)
Fluorescence in situ hybridization (FISH) enables targeted detection of specific chromosomal abnormalities at high sensitivity and resolution. We offer a comprehensive range of FISH assays for both hematologic malignancies and solid tumors, including probes for diagnostic, prognostic, and therapeutic markers.
The laboratory maintains an extensive and continuously expanding test menu, including over one hundred validated FISH probes covering a broad spectrum of hematologic and solid tumor applications.
FISH testing is performed on a variety of specimen types and is integrated with cytogenetic and molecular findings to support clinical decision-making.
Chromosomal Microarray Analysis (CMA)
Chromosomal microarray analysis (CMA) provides genome-wide assessment of copy number variations and regions of homozygosity. This technology enables detection of submicroscopic chromosomal abnormalities not identifiable by conventional karyotyping.
CMA is utilized for constitutional genetic disorders, as well as selected oncology applications, providing high-resolution genomic insight into disease etiology.
Automated Imaging and Analysis (MetaSystems)
The laboratory is implementing advanced automated imaging and analysis platforms from MetaSystems to support both karyotyping and FISH analysis. These systems enable high-throughput image acquisition, automated metaphase detection, and enhanced visualization of chromosomal abnormalities.
Integration of automated image analysis improves workflow efficiency, standardization, and diagnostic accuracy, while allowing expert review and interpretation by laboratory directors.
Integrated Cytogenetic and Genomic Analysis
All testing modalities are interpreted in an integrated manner, combining karyotyping, FISH, and microarray data to provide comprehensive diagnostic insights. Laboratory directors collaborate closely in the interpretation and sign-out of cases to ensure accurate, clinically meaningful reporting across the full spectrum of cytogenetic testing.
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