Cytogenetics & FISH
A Subspecialty Of Molecular Pathology & Genomics
About Cytogenetics & FISH
Cytogenetics is the analysis of chromosomes as they relate to constitutional genetic disease and acquired cancer-related genomic abnormality. Constitutional genetic applications include pre-and post-natal diagnosis of genetic syndromes such as Down syndrome and investigation of causes of reproductive failure. Cancer-related applications involve identification of chromosomal abnormalities that provide diagnostic, prognostic and therapeutic guidance for a wide range of hematologic and other neoplasms.
Testing
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Our Faculty
The Stanford Cytogenetics Service offers a comprehensive menu of testing for the diagnosis of chromosomal abnormalities present at birth and those that are acquired as various diseases progress. We offer chromosome, fluorescence in situ hybridization (FISH) and microarray analysis for many indications and sample types including peripheral blood, bone marrow, amniotic fluid, chorionic villus sampling (CVS), products of conception, skin biopsies, and solid tumors.
Chromosome analysis involves the testing of blood, bone marrow, prenatal (amniotic fluid and chrionic villi) and other tissues for rearrangement, loss, gain and breakage for rearrangement, loss, gain and breakage of the metaphase chromosomes. FISH (fluorescence in situ hybridization) and aCGH/CMA (array comparative genomic hybridization/chromosomal microarray) involves the indirect analysis of chromosomes, interphase nuclei or extracted DNA using molecular probes and molecular cytogenetic methodologies.
Our board-certified laboratory directors work closely with physicians, genetic counselors and hospital staff to identify the proper testing for the specimen available.
Constitutional Cytogenetics
Stanford offers expertise in constitutional cytogenetics with extensive diagnostic services for genetic abnormalities that are present at birth. We provide prenatal and postnatal screening and diagnosis of chromosomal abnormalities seen in patients with congenital anomalies, intellectual and neurodevelopmental disorders, infertility and reproductive disorders. The testing offered and sample types evaluated include:
- Amniotic fluid, chorionic villi sampling (CVS) and percutaneous umbilical blood sampling (PUBS) for prenatal diagnosis;
- Peripheral blood samples in couples with multiple miscarriages;
- Peripheral blood samples of children with multiple congenital anomalies and intellectual disability;
- Fluorescence in situ hybridization (FISH) for:
- Microdeletion syndromes
- Identification of marker chromosomes
- Array Comparative Genomic Hybridization (micro array)
- Tissue samples on products of conception, skin biopsies, etc.
Cancer Cytogenetics
Stanford’s Cancer Cytogenetics Laboratory specializes in the analysis of chromosome abnormalities in blood diseases as well as cytogenetic and cytogenomic testing of solid tumors, leukemias and lymphomas. Cytogenetics remains a critical component in the diagnosis, prognosis, disease monitoring and treatment selection for many neoplastic disorders. Our cancer cytogenetics services include:
- Bone marrow aspirates on patients with leukemia, lymphoma and other hematological disorders;
- Tumor samples of solid neoplasms;
- Fluorescence in situ hybridization (FISH) of direct formalin-fixed paraffin-embedded specimens for:
- Cancer-specific rearrangements and copy number changes
- HER2 amplification in breast cancer
- Screening for recurrent bladder cancer (UroVysion)
Test Directory
Learn more about our Cytogenetics/FISH testing.
Sample Submission
All specimens must be accompanied by a Stanford requisition and all samples must be labeled with the patient’s name, and at least one other unique identifier.
Please refer to the individual test listing in the Test Directory for collection requirements. If there are questions about the most effective testing for the available specimen, please contact our lab for consultation.
Shipping
Samples should be shipped or delivered via courier at room temperature to:
Stanford Clinical Laboratories
Attn: Cytogenetics/FISH
3375 Hillview Avenue
Palo Alto, CA 94304
Customer Service Phone: 1-877-717-3733
New Client Inquiries
To arrange to be set up as a new client, please contact: pathologymarketing@stanfordhealthcare.org
Contact Us
To submit a sample to Cytogenetics/FISH, please complete a requisition and send with sample to:
Stanford Clinical Laboratories
Attn: Specimen Processing
3375 Hillview Avenue
Palo Alto, CA 94304
Customer Service Phone:
1-877-717-3733
cytogenetics@
stanfordhealthcare.org
Do not send patient info to this email.
Medical Director:
Elizabeth Spiteri
To arrange to be set up as a new client, please contact:
pathologymarketing@
stanfordhealthcare.org
SAMPLE SUBMISSION LOGISTICS
For more information on submitting cases, see the links below:
All Requisitions
Download Stanford Requisitions for specimen submission.
Account Set-up
Information on personalized requisitions, supplies, shipping and courier pick-up.
Pricing Inquiries
Pricing inquiries and contract information.
Billing
Billing policies, information and questions (includes details on third party billing).
Results Web Portal
Request access or log-in to our client results portal.
Specimen Collection and Handling
Specifications for Specimen Collection and Handling.
Consult Service FAQ's
Get answers to Frequently Asked Questions.
Elizabeth Spiteri
APPOINTMENTS
Clinical Associate Professor, Pathology
Director of Cytogenetics/FISH Laboratory
Member, Maternal & Child Health Research Institute (MCHRI)
PRACTICE AREAS
- Clinical Molecular Genetics
- Clinical Pathology
CONTACT
Email: spiterie@stanford.edu
Phone: (650) 497-6500
More information about Elizabeth Spiteri:
https://med.stanford.edu/profiles/elizabeth-spiteri
https://profiles.stanford.edu/elizabeth-spiteri
Melanie Manning, MD
APPOINTMENTS
- Clinical Associate Professor in Pathology, Cytogenetics Laboratory
- Associate Director, Cytogenetics Laboratory
PRACTICE AREAS
- Clinical Cytogenetics
- Medical Genetics
CONTACT
Email: mmanning@stanford.edu
Phone: (650) 721-5804
More information about Melanie Manning:
https://med.stanford.edu/profiles/melanie-manning
https://profiles.stanford.edu/melanie-manning
The Stanford Cytogenetics Service offers a comprehensive menu of testing for the diagnosis of chromosomal abnormalities present at birth and those that are acquired as various diseases progress. We offer chromosome, fluorescence in situ hybridization (FISH) and microarray analysis for many indications and sample types including peripheral blood, bone marrow, amniotic fluid, chorionic villus sampling (CVS), products of conception, skin biopsies, and solid tumors.
Chromosome analysis involves the testing of blood, bone marrow, prenatal (amniotic fluid and chrionic villi) and other tissues for rearrangement, loss, gain and breakage for rearrangement, loss, gain and breakage of the metaphase chromosomes. FISH (fluorescence in situ hybridization) and aCGH/CMA (array comparative genomic hybridization/chromosomal microarray) involves the indirect analysis of chromosomes, interphase nuclei or extracted DNA using molecular probes and molecular cytogenetic methodologies.
Our board-certified laboratory directors work closely with physicians, genetic counselors and hospital staff to identify the proper testing for the specimen available.
Constitutional Cytogenetics
Stanford offers expertise in constitutional cytogenetics with extensive diagnostic services for genetic abnormalities that are present at birth. We provide prenatal and postnatal screening and diagnosis of chromosomal abnormalities seen in patients with congenital anomalies, intellectual and neurodevelopmental disorders, infertility and reproductive disorders. The testing offered and sample types evaluated include:
- Amniotic fluid, chorionic villi sampling (CVS) and percutaneous umbilical blood sampling (PUBS) for prenatal diagnosis;
- Peripheral blood samples in couples with multiple miscarriages;
- Peripheral blood samples of children with multiple congenital anomalies and intellectual disability;
- Fluorescence in situ hybridization (FISH) for:
- Microdeletion syndromes
- Identification of marker chromosomes
- Array Comparative Genomic Hybridization (micro array)
- Tissue samples on products of conception, skin biopsies, etc.
Cancer Cytogenetics
Stanford’s Cancer Cytogenetics Laboratory specializes in the analysis of chromosome abnormalities in blood diseases as well as cytogenetic and cytogenomic testing of solid tumors, leukemias and lymphomas. Cytogenetics remains a critical component in the diagnosis, prognosis, disease monitoring and treatment selection for many neoplastic disorders. Our cancer cytogenetics services include:
- Bone marrow aspirates on patients with leukemia, lymphoma and other hematological disorders;
- Tumor samples of solid neoplasms;
- Fluorescence in situ hybridization (FISH) of direct formalin-fixed paraffin-embedded specimens for:
- Cancer-specific rearrangements and copy number changes
- HER2 amplification in breast cancer
- Screening for recurrent bladder cancer (UroVysion)
Test Directory
Learn more about our Cytogenetics/FISH testing.
close Testing
Sample Submission
All specimens must be accompanied by a Stanford requisition and all samples must be labeled with the patient’s name, and at least one other unique identifier.
Please refer to the individual test listing in the Test Directory for collection requirements. If there are questions about the most effective testing for the available specimen, please contact our lab for consultation.
Shipping
Samples should be shipped or delivered via courier at room temperature to:
Stanford Clinical Laboratories
Attn: Cytogenetics/FISH
3375 Hillview Avenue
Palo Alto, CA 94304
Customer Service Phone: 1-877-717-3733
New Client Inquiries
To arrange to be set up as a new client, please contact: pathologymarketing@stanfordhealthcare.org
Contact Us
To submit a sample to Cytogenetics/FISH, please complete a requisition and send with sample to:
Stanford Clinical Laboratories
Attn: Specimen Processing
3375 Hillview Avenue
Palo Alto, CA 94304
Customer Service Phone:
1-877-717-3733
cytogenetics@
stanfordhealthcare.org
Do not send patient info to this email.
Medical Director:
Elizabeth Spiteri
To arrange to be set up as a new client, please contact:
pathologymarketing@
stanfordhealthcare.org
SAMPLE SUBMISSION LOGISTICS
For more information on submitting cases, see the links below:
All Requisitions
Download Stanford Requisitions for specimen submission.
Account Set-up
Information on personalized requisitions, supplies, shipping and courier pick-up.
Pricing Inquiries
Pricing inquiries and contract information.
Billing
Billing policies, information and questions (includes details on third party billing).
Results Web Portal
Request access or log-in to our client results portal.
Specimen Collection and Handling
Specifications for Specimen Collection and Handling.
Consult Service FAQ's
Get answers to Frequently Asked Questions.
close Submit a Sample
Elizabeth Spiteri
APPOINTMENTS
Clinical Associate Professor, Pathology
Director of Cytogenetics/FISH Laboratory
Member, Maternal & Child Health Research Institute (MCHRI)
PRACTICE AREAS
- Clinical Molecular Genetics
- Clinical Pathology
CONTACT
Email: spiterie@stanford.edu
Phone: (650) 497-6500
More information about Elizabeth Spiteri:
https://med.stanford.edu/profiles/elizabeth-spiteri
https://profiles.stanford.edu/elizabeth-spiteri
Melanie Manning, MD
APPOINTMENTS
- Clinical Associate Professor in Pathology, Cytogenetics Laboratory
- Associate Director, Cytogenetics Laboratory
PRACTICE AREAS
- Clinical Cytogenetics
- Medical Genetics
CONTACT
Email: mmanning@stanford.edu
Phone: (650) 721-5804
More information about Melanie Manning:
https://med.stanford.edu/profiles/melanie-manning
https://profiles.stanford.edu/melanie-manning
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