Cytogenomics

Home » Cytogenomics

Cytogenomics

Molecular Pathology Laboratory Network, Inc. (MPLN) has been on the forefront of laboratory medicine since its inception. MPLN Cytogenomics provides a broad menu of testing, including both chromosome analysis and fluorescent in situ hybridization (FISH) with industry-leading turn-around times and global harmonious coverage for traditional cytogenetics and specific FISH chromosomal analyses. Board-certified laboratory directors work closely with licensed cytogenetic technologists to ensure accurate and efficient testing, competitive pricing, and the highest quality of service. Our expert team includes individuals with decades of experience in this specialized field.

Bladder cancer probes_normal cells

FISH

MPLN offers an extensive FISH menu with over 40 different loci and multiple disease-specific panels capable of detecting gene amplification/deletions, translocations, and inversions. Testing is performed on bone marrow, blood, and FFPE samples with the following offerings:

  • >40 loci targeted by FISH probes
  • Plasma cell enrichment for the detection of plasma cell disorders
  • Stat turn-around on suspected acute promyelocytic leukemia cases (PML::RARA)
  • Stat turn-around on acute myeloid leukemia cases
  • Urine analysis for bladder cancer testing
  • Custom FISH assay or FISH panel development
Normal male karyotype

Constitutional Chromosome Studies

Cytogenetic analysis to determine if constitutional abnormalities are present is performed for a variety of indications including multiple congenital abnormalities, mental retardation of unknown etiology, abnormalities of growth, features of a recognized genetic syndrome, recurrent pregnancy loss, prenatal diagnosis via amniocentesis, mosaicism, stillbirth, fetal loss, or molar pregnancy. Adjunct studies such as FISH or other molecular and biochemical testing can be performed in addition to chromosomal analysis.

Chromosome Analysis (Traditional Cytogenetics)

Chromosomal abnormalities are a major contributor to disease. Cytogenetic analysis is critical in the diagnosis, prognosis, and the selection of treatment in numerous hematopoietic disorders, including leukemia and lymphoma. In addition to oncology, chromosome disorders are responsible for a large proportion of individuals with recurrent pregnancy loss, infertility, intellectual disability, and congenital malformations. Our test menu includes offerings covering both oncology and constitutional chromosomal analysis:


Oncology chromosome analysis

  • Bone marrow aspirate
  • Bone marrow core
  • Peripheral blood
  • Tissues for short term culture (lymph node, fine needle aspirate, cerebral spinal fluid, vitreous fluid)

Constitutional chromosome analysis

  • Peripheral blood
  • Newborn blood
fusion positive

Cancer Chromosome Studies

Cytogenetic analysis in neoplastic diseases involves the study of the cancer cells themselves. In leukemia, a bone marrow aspirate is usually obtained for study. In some cases, peripheral blood is used in place of the bone marrow, particularly if the white blood cell count is >10,000. The purpose of the cytogenetic study in hematological disorders is to detect the presence of acquired chromosome changes, i.e., those aberrations that have arisen secondary to the disease state. The study of chromosomes in leukemia serves two functions:

  • To assist in a more accurate diagnosis, thereby
    providing important prognostic information
  • To identify the sites of consistent rearrangements
    and identify common changes early in order to
    characterize many clonal lines

Specific chromosome abnormalities often correlate with particular subtypes of disease. Serial samples from the
patient permit the study of cytogenetic patterns during the various stages of a patient’s clinical course.

Constitutional Chromosome Studies

Cytogenetic analysis to determine if constitutional abnormalities are present is performed for a variety of indications including multiple congenital abnormalities, mental retardation of unknown etiology, abnormalities of growth, features of a recognized genetic syndrome, recurrent pregnancy loss, prenatal diagnosis via amniocentesis, mosaicism, stillbirth, fetal loss, or molar pregnancy. Adjunct studies such as FISH or other molecular and biochemical testing can be performed in addition to chromosomal analysis.

FISH

In addition to offering high quality chromosome analysis, the cytogenetics laboratory also specializes in fluorescence in situ hybridization (FISH). FISH, a molecular cytogenetic technique, enables the analysis of disease specific abnormalities. It is offered for the detection of cryptic rearrangements, microdeletion syndromes, aneuploidy, and marker chromosome identification.

One Source

Coordinating laboratory tests and results within one facility, MPLN provides a single source for anatomic pathology, FISH, flow cytometry, cytogenetics, and molecular testing.
Using one source for your laboratory testing provides simpler logistics for ordering, molecular reflex testing, reporting, billing, and patient management.

Contact Us

For more information, visit us online at www.MPLNet.com or contact us at 800.932.2943.
Molecular Oncology
Karyotype showing trisomy 21 consistant with a clinical diagnosis of Down syndrome
Molecular Oncology
Karyotype showing the Philadelphia translocation involving chromosomes 9 and 22
Test Name Specimen Requirements
Cancer cytogenetics
(CYTO BM, CYTO UPB, CYTO ST)		 7mL (min. 5mL) whole blood or 3mL (min. 1mL) bone marrow in sodium heparin, 5mm3 bone marrow core biopsy or fresh tissue in transport media, 4mL (min. 2mL) fine needle aspiration in tissue transport media, 15mL ascites, gastric pleural effusions in plain tube
Prenatal chromosome analysis
(CYTO PN, CYTO AF)		 30mL (min 20mL) amniotic fluid in 2-3 sterile tubes
Constitutional tissue chromosome analysis
(CYTO TC)		 Products of conception, fetal tissue, 1cm skin biopsy or other solid tissue in sterile tissue transport media
Constitutional peripheral blood chromosome analysis
(CYTO PB)		 7mL (min. 5mL) whole blood or 1ml newborn blood or 2mL (min. 1mL) percutaneous umbilical cord blood in sodium heparin
Fluorescence in situ hybridization Peripheral blood, amniotic fluid, solid tissue, and bone marrow samples with or without routine chromosome studies; please see catalogue for more detailed information

    Project Management

    Our project managers have strong scientific backgrounds and extensive experience in complex research-based clinical trials. They collaborate with our scientific operations, client services, and commercial operations teams to deliver high-quality, regulatory-compliant testing results on time at every project step.

    Key Features

    • Each study is assigned a dedicated and experienced project manager
    • Studies are typically set up within 6 to 8 weeks of contract signature
    • Project management software tools ensure timely deliveries
    • Onsite customer service teams efficiently resolve queries and deliver reports

    Benefits

    • Accelerated study setup time
    • Responsive communication with the scientific and operational team
    • Testing completed on time and within budget
    • Prompt reporting of critical study data

    Data Management

    The key to a successful clinical trial is accurate, clean, quality data. Our team of data managers provides you with data in customized formats exported to your data management teams from our in-house laboratory information system (LIS).

    Key Features

    • Access to dedicated and experienced data specialists upon contract award
    • Customized reports are agreed upon in study-specific data transfer agreement
    • In-house software development team for custom data solutions
    • Flexible data exports and data transfers

    Benefits

    • Real-time reports for your data and project teams to aid in patient management
    • Guaranteed data integrity and quality
    • Improved decision-making and enhanced patient safety
    • Timely access to accurate, clean data for intermediate or final database lock
    Genomic Solutions

    Genomic Solutions

    Genomic medicine, a vital tool in oncology and drug development by providing deeper, more personalized insights into each patient.
    Beyond informing drug target discovery, validation, and clinical development, it uncovers critical genetic markers that drive disease progression and influence individual treatment responses. This empowers healthcare professionals to create more precise, tailored treatment plans, optimizing medical management based on each patient’s unique genetic profile.

    DNA Solutions – WGS*, WGMS*, WES*, TSO-500 Comp, Pillar OncoReveal
    RNA Solutions – Total RNA-Seq*, RNA exome*, mRNA*
    Liquid Biopsy Solutions – TSO-500 ctDNA, PGDx elio™ plasma complete*

    Key Features

    • Targeted NGS panels, including FDA-approved assays with companion diagnostic designations
    • Customized bioinformatics and reporting solutions 
    • Robust assay designs to accommodate low-yielding biopsy material
    • Streamlined wet lab processes to meet screening window timelines

    Benefits

    • Identify variants along with key biomarker signatures
    • Save time and money by assessing multiple biomarkers in a single test
    • Enable targeted therapies with actionable, easy-to-interpret results
    • Assists in targeted patient stratification and recruitment
    • Accelerates the development of personalized medicine

    *Offered through fully accredited partner laboratories.
    Digital Pathology

    Digital Pathology

    Digital pathology revolutionizes clinical trials by enhancing accessibility, cost-efficiency, compliance, and data management. MPLN’s comprehensive digital pathology services streamline clinical research, allowing for improved patient outcomes and operational efficiency.

    Features:

    • Seamless access to digital slides and slide retrieval enables instant access to digital slides.
    • Cost-effective digital slide management streamlines logistics by reducing the need for physical slide storage and transportation.
    • Digital storage ensures slides remain in perfect condition over time.

    Benefits:

    • Allows key opinion leaders (KOL) and remote client pathologists to be utilized
    • Digital slides can be easily shared, allowing for faster, more collaborative decisions, including obtaining second opinions.
    • Reduces the costs associated with physical storage and transport of slides, improving trial efficiency.
    • Simplifies regulatory processes, ensuring quicker and more accurate FDA submissions and audit readiness.
    • Prevents slide degradation or breakage, maintaining the quality of research data for the long term.
    • Enables broader patient recruitment by facilitating decentralized clinical trials for wider geographic participation, increasing patient recruitment and diversity.
    Global Logistics

    Global Logistics

    Effective global logistics are the cornerstone of effective specialty laboratory testing supporting global clinical trials. With precious patient samples such as biopsy and bone marrow aspirates, ensuring samples reach the lab on time and within stability is paramount.

    Key Features

    • Partnerships with global specialist couriers and large integrators to support global studies and specialty shipping requirements
    • Ambient, refrigerated, frozen, and liquid nitrogen storage and shipment services available
    • Real-time or batched shipments based on your clinical trial’s individual needs
    • Secure, high-volume, redundant data storage solutions for digital pathology images
    • Expert advice for effective sample collection, handling, and transport
    • Accurate tracking and inventory for all clinical trial specimens

    Benefits

    • Safe and effective transport of specimens worldwide
    • Standardized procedures to reduce pre-analytical variability and ensure valid results
    • Centralized and harmonized specialty pathology testing supported
    • Reduced costs and maximized budgets with fully managed logistics from one trusted source
    • Readily available inventories, manifests, and shipments for timely study closeouts
    Multiplex IHC clinical trial services

    IHC & Multiplex IHC

    Our advanced technology enables simultaneous visualization of single or multiple biomarkers within the same tissue section, delivering comprehensive insights and precise diagnostics. With unmatched expertise and cutting-edge technology, our team supports you in understanding complex tissue microenvironments, aiding patient stratification and treatment response prediction.

    Features:

    • Simultaneously visualize multiple biomarkers within the same tissue section for deeper insights.
    • Advanced analysis of tissue microenvironments to assist in patient stratification and treatment response prediction.
    • Custom assay design and flexible testing to meet your unique research or clinical trial needs.
    • Detailed data analysis and interpretation are provided by our expert team to ensure accurate results.

    Benefits:

    • Allows enhanced information from small biopsy samples. (I.e. NSCLC)
    • Gain comprehensive insights that lead to more precise diagnostics and better patient outcomes.
    • Enhanced ability to identify patient subgroups and better predict treatment responses with greater accuracy.
    • Whether in biomarker discovery or clinical trials, our advanced technology supports a range of applications, helping you unlock the full potential of your tissue samples.
    Cytogenetics FISH - clinical trial services

    Cytogenetics & FISH

    We offer a comprehensive range of chromosome analysis and fluorescent in situ hybridization (FISH) testing with industry-leading turnaround times and global coverage. Our board-certified lab directors and experienced cytogenetic technologists ensure accurate, efficient, and competitively priced testing with the highest quality of service.

    Features:

    • Extensive FISH menu of over 40 loci and disease-specific panels detecting gene amplifications, deletions, translocations, and inversions.
    • Testing is available on bone marrow, blood, and FFPE tissue samples.
    • Specialized Offerings:
      • Plasma cell enrichment for plasma disorders
      • Stat turnaround for PML::RARA and acute myeloid leukemia
      • Bladder cancer urine analysis
      • Custom FISH assay development
    • Comprehensive chromosome analysis testing for oncology, infertility, recurrent pregnancy loss, and congenital disorders.
    • Global coverage of equivocal CAP/CLIA services supporting clinical trials

    Benefits:

    • Rapid, precise results critical for diagnosis and treatment.
    • Expert-driven testing with Board-certified experts ensures the highest accuracy.
    • Tailored assays and solutions to meet unique clinical needs.
    • Faster diagnostics support timely treatment decisions.