Diagnostic Services

Acetylcholinesterase (AChE) is a neural enzyme present in cerebral spinal fluid and fetal blood. AChE is not present in maternal blood and is not normally measurable in amniotic fluid.  The abnormal presence of acetylcholinesterase in amniotic fluid is indicative of an open fetal defect. When AChE is detected, the ratio of AChE to pseudocholinesterase (PChE), a non-specific cholinesterase usually found in amniotic fluid, may help distinguish open neural tube defects from open ventral wall defects or fetal blood contaminated fluid.

Alpha-fetoprotein (AFP) is a protein produced by the fetal liver. The function of the protein is not known. It is found in high concentration in fetal blood and in lower concentration in fetal urine. AFP can be measured in amniotic fluid which is composed primarily of fetal urine. Amniotic fluid AFP (AF-AFP) may be elevated in open fetal body wall defects, most commonly open neural tube defects (NTD) and open ventral wall defects, due to transfer from exposed fetal vessels and tissue. AF-AFP is elevated in congenital nephrosis from increased glomerular filtration of this relatively small protein. In cases with elevated AF-AFP, the risk for an open NTD or other fetal abnormality depends on the degree of elevation in the AF-AFP MoM (multiple of the median), the results of amniotic fluid acetylcholinesterase testing, the detection of fetal hemoglobin and other significant risk factors.

• Abnormal first trimester screening result
• Advanced maternal age (>35 years of age)
• Previous pregnancy with chromosomal abnormality
• Recurrent spontaneous miscarriage
• Family history of a chromosomal abnormality
• Abnormal maternal serum screening results
• Abnormal ultrasound findings

• Abnormal first trimester screening result
• Advanced maternal age (>35 years of age)
• Previous pregnancy with chromosomal abnormality
• Recurrent spontaneous miscarriage
• Family history of a chromosomal abnormality
• Abnormal maternal serum screening results
• Abnormal ultrasound findings

Identification of carriers for autosomal recessive diseases of increased prevalence among people of Jewish descent.

UroVysion is a fluorescence in situ hybridization (FISH) based molecular cytogenetic test that detects aneuploidy of chromosomes 3, 7 and 17 and the deletion of the 9p21 locus in carcinoma cells present in urine specimens.  This test is used to diagnose bladder cancer in patients with hematuria (adjunct to ThinPrep-based urine cytology) and to monitor bladder cancer recurrence.

The identification of HER-2 over expression by immunohistochemistry in conjunction with gene amplification detected by FISH is associated with a comprehensive positive response to the humanized, monoclonal antibody Herceptin® in patients that have failed standard chemotherapy treatment.  The detection of HER-2 gene amplification by FISH analysis is linked with rapid cancer cell proliferation, decreased disease-free survival and poor overall survival in both node-negative and node-positive ductal breast cancers.  In patients with advanced breast carcinoma, HER-2 amplification predicts responsiveness to transtuzumab (Herceptin®) therapy and poor response to standard chemotherapy.

• Advanced maternal age (>35 years of age)
• Previous pregnancy with chromosomal abnormality
• Recurrent spontaneous miscarriage
• Family history of a chromosomal abnormality
• Abnormal maternal serum screening results
• Abnormal ultrasound findings

Cytogenetic analysis of peripheral blood (if 10% or more blasts present) can identify numerical and structural chromosomal aberrations that are diagnostic and/or prognostic for some types of leukemia and lymphoma.  Chromosome analysis is often employed for staging, monitoring treatment and predicting relapse.  Leukemias and lymphomas can be distinguished by specific chromosome abnormalities which can aid in precise diagnosis, disease etiology, patient prognosis and disease management.

Since bone marrow is composed of actively dividing cells, and is usually the source of lymphomas and leukemic cells, it is more often the specimen of choice for analysis.  Cytogenetic analysis of bone marrow can identify acquired chromosome abnormalities that are diagnostic and/or prognostic for some types of leukemia and lymphoma.  Chromosome analysis is often employed for staging, monitoring treatment and predicting relapse.  Leukemias and lymphomas can be distinguished by specific chromosome abnormalities which can aid in precise diagnosis, disease etiology, patient prognosis and disease management.

Many solid tumors, especially soft tissue sarcomas, have precise structural chromosomal abnormalities that are important for precise diagnosis.  Cancer cytogenetic studies can identify numerical and structural chromosomal abnormalities that are diagnostic and/or prognostic for various types of solid tumors.

When a submicroscopic gain or loss of chromosomal material is suspected and is beyond the resolution of routine chromosome analysis, CGH microarray should be considered as adjunct testing.