- FISH
- PCR
- Real Time PCR
- Reverse Transcriptase PCR
- DNA Sequencing
PCR & RT-PCR
A variety of molecular-based testing is available to assist the physician in the diagnosis and monitoring of patients with genetic disorders. Testing techniques include: polymerase chain reaction (PCR), Reverse transcriptase PCR (RT-PCR),Oligonucleotide ligation assay (OLA), probe-hybridization assays, sequencing, and fragment length polymorphisms. Such tests can be used to determine: inherited genetic abnormalities in hypercoagulable syndromes (i.e. Factor V(Leiden), prothrombin 20210, MTHFR), cystic fibrosis mutations, B- and T-cell clonality in lymphoproliferative syndromes, inherited abnormalities in iron overload disorders (i.e. hereditary hemochromatosis), monitoring following molecularly targeted therapies (i.e. t(9;22 BCR/ABL post-Gleevec), and engraftment status of bone marrow transplant recipients.
Molecular Cytogenetics ( FISH )
Fluorescence in situ hybridization (FISH) utilizes fluorescent-labeled
DNA probes to defined chromosomal sequences (e.g., translocation breakpoint
cluster regions, centromeric sequences) to identify translocations, deletions,
and amplifications of genes as well as changes in chromosome number. Whereas
traditional cytogenetic analysis requires metaphase (dividing) cell preparations
and is subject to the limitations of detection by light microscopy, FISH
can be applied to either metaphase or interphase (non-dividing) cell preparations.
FISH analyses allow visualization of an abnormal chromosomal complement
that otherwise might go undetected (e.g., in a hematologic population
where cells are not dividing or in a patient who has a cryptic translocation
or microdeletion). FISH can be performed for specific abnormalities including:
translocation breakpoints in leukemia/lymphoma [t(9;22), t(15;17), inv(16),
t(14;18), etc.]; marker chromosome identification, mosaicism studies,
and prenatal detection of aneuploidy.
A careful review of a personal and family history will help determine whether cancer might be hereditary in a family. If a personal or family history includes any of the following risk factors, the patient may be at high risk of a hereditary cancer:
-
Cancer before the age of 50 (Breast, Ovarian, Colon, or Endometrial)
-
Families with 2 or more women with breast cancer diagnosed before the age of 50.
-
Women with breast cancer diagnosed 50 years old or younger, even in the absence of a family history.
-
Personal or family history of ovarian cancer (at any age).
-
Personal or family history of male breast cancer (at any age).
-
Personal or family history of bilateral breast cancer-cancer in both breasts (at any age).
-
Personal or family history of both breast & ovarian cancer in the same individual (at any age).
-
Ashkenazi Jewish background with a personal or family history of breast and/or ovarian cancer.
-
Polyposis (multiple polyps in the stomach or intestines).
- Same type of cancer in several generations of your family.
