Test Directory

FISH on peripheral or cord blood is useful for the detection of aneuploidy for chromosomes 13, 18, 21, X and Y. Most often this analysis will involve rapid testing of newborns to confirm suspected aneuploidy, based on either a clinical suspicion or an abnormal prenatal test result. A concurrent G-banded chromosome study is suggested. No additional specimen required.

Detection of aneuploidy for chromosomes 3, 7 and 17, and loss of the 9p21 in patients with a suspected diagnosis of pancreatobiliary carcinoma.

Detection of known or suspected genetic abnormalities to confirm or establish patient diagnosis of tumor subtypes and prognostic grouping important for subsequent therapy. Companion testing with chromosome analysis to further delineate chromosomal abnormalities.

This test is intended to be used to monitor carnitine supplementation therapy, to detect secondary carnitine depletion syndromes, and to detect autosomal recessive primary carnitine uptake deficiency.

Detection of submicroscopic chromosomal genetic imbalances and identification of cryptic deletions and/or duplications beyond the resolution of conventional karyotyping. Utilized as a first tier test for unexplained developmental delay and autism spectrum disorder, as well as multiple congenital anomalies that do not fall into a syndromic category.

Chromosome abnormalities are estimated to be the cause of 15% to 60% of spontaneous abortions or may result in malformed fetuses or neonatal deaths. Analysis of fetal tissue/products of conception (POC) by Chromosomal Microarray (CMA) may identify the cause of the spontaneous abortion, malformation, or neonatal death. CMA may also help in assessing risk for additional pregnancy loss or having subsequent children with chromosome abnormalities, and may be important in managing future pregnancies. Indications for this test include fetal demise or stilbirth, pregnancy loss or termination in the presence of fetal anomalies, further characterization of fetal chromosomal abnormalities seen by conventional G-banded cytogenetic analysis, and analysis of specimens that fail to grow in culture. Traditional G-banded chromosome analysis for POC yields low resolution structural and numerical analysis of the chromosomes, while CMA provides high definition copy number analysis. Chromosome analysis can be ordered concurrently with CMA or CMA can be reflexed after normal chromosome results or a culture failure.

When bone marrow is not available. Detection of acquired genetic chromosomal anomalies associated with a neoplastic process. Assists in the diagnosis, classification, and follow-up of certain malignant hematological disorders. Companion fluorescent in situ hybridization (FISH) testing with appropriate probe sets may further delineate chromosome abnormalities and assess minimal residual disease.

Prenatal (fetal) analysis of amniocytes is a useful diagnostic method for identifying chromosomal abnormalities associated with a large number of congenital disorders and birth defects. This method is used for detection of genetic chromosomal abnormalities in patients with advanced maternal age (AMA), family history of genetic abnormality, abnormal prenatal screening, or abnormal fetal ultrasound. Companion fluorescence in situ hybridization (FISH) testing for prenatal aneuploidy screening (13, 18, 21, X, Y) may also be performed. No additional specimen is required.

Investigation of possible chromosomal breakage in patients exposed to various agents known to cause chromosome damage.

Detection of acquired genetic chromosomal anomalies associated with a neoplastic process. Assists in the diagnosis, classification, prognosis, and follow-up of certain malignant hematopoietic neoplasms. Continued monitoring of chromosomes through treatment and remission for assessment of disease status, observation of clonal progression, and direction of therapy. Companion fluorescence in situ hybridization (FISH) testing with appropriate probe sets may further delineate chromosome abnormalities and assess minimal residual disease.