Test Directory

Urgent diagnosis of genetic chromosomal anomalies associated with multiple congenital anomalies in a newborn.

Prenatal (fetal) analysis of chorionic villus (CVS) sampling is a useful diagnostic method for identifying fetal chromosomal abnormalities. This method is used for detection of genetic chromosomal abnormalities in patients with 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.

Rapid analysis for detection of numerical and structural abnormalities of autosomes and sex chromosomes for newborns/individuals with multiple congenital anomalies. In addition, this test is often requested for infants in distress, with ambiguous genitalia, or suspected aneuploidy. G-banded karyotyping allows for the visualization and analysis of chromosomes for chromosomal rearrangements, including gains and losses, and structural rearrangements. Companion fluorescence in-situ hybridization (FISH) testing may also be utilized.

Detection of numerical and structural abnormalities of autosomes and sex chromosomes. G-banded karyotyping allows for the visualization and analysis of chromosomes for chromosomal rearrangements, including genomic gains and losses. Post-natal peripheral blood (leukocyte) chromosomes are indicated for an array of physical and/or mental difficulties. Approximately 7/1,000 live-births each year have a chromosome abnormality. Chromosomal microarray (CMA) is recommended if congenital anomalies are present that are not well defined by a known syndrome. CMA is also recommended for developmental delay and autism spectrum disorders. Companion fluorescence in-situ hybridization (FISH) testing may also be utilized.

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 chromosomes from fetal tissue/Products of Conception (POC) can identify the cause of the spontaneous abortion, malformation or neonatal death. It can also help in assessing recurrence risk for pregnancy loss, risk for having subsequent children with chromosome abnormalities and may be important in managing future pregnancies. Indications for this test include fetal demise, malformed fetus, patients with a history of miscarriage or abnormal ultrasound. This test is also useful for confirmation of known genetic abnormality.

Detection of genetic chromosomal abnormalities in patients with suspected mosaicism and/or when peripheral blood specimen is of poor quality/inconclusive or sampling is not possible. To identify translocations, duplications, deletions, inversions, mosaicism, marker chromosomes, and numerical aberrations.

FISH is useful to identify and track chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) for diagnostic and prognostic purposes as well as for follow-up to evaluate patient response to therapy.

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.

CFTR mutation analysis is recommended for Individuals with clinical symptoms of cystic fibrosis; individuals with a positive family history of cystic fibrosis; and individuals planning or having a pregnancy.

CFTR mutation analysis is recommended for individuals with clinical symptoms of cystic fibrosis; individuals with a positive family history of cystic fibrosis; and individuals planning or having a pregnancy.