Chromosome Analysis/Karyotype

Classical cytogenetic analysis of karyotyping is utilized to identify numerical and structural abnormalities at the level of the chromosome. Routine karyotype analysis is most often performed by GTG-banding, however our lab is capable of analysis using C or NOR banding. All samples are cultured according to the type of specimen and the requirements for compete analysis. Our laboratory performs karyotype analysis for any clinical need, including congenital and acquired disorders.

Karyotype analysis utilized in the diagnosis of congenital disorders can be performed on a number of specimen types including amniotic fluid, chorionic villi, products of conception and peripheral blood.

Chromosome analysis for the diagnosis and monitoring of acquired disorders can be performed on several specimen types such as bone marrow, bone core biopsy, involved blood and solid tumor tissue samples.

Chromosomal Microarray Analysis (CMA)

Chromosomal microarray analysis (CMA) is a high resolution molecular genetic test which is able to detect very small gains and losses across the entire genome. Our CMA has more than 2.67 million unique markers which report copy-number, 750,000 of which are SNP probes and over 1.9 million non-polymorphic copy number probes.  Copy-number probes can provide information for deletion, duplication, marker chromosomes and other unbalanced rearrangements.  The SNP probes can identify long contiguous stretches of homozygosity (LSCH) which can contribute to disease.

CMA testing is performed for a wide range of constitutional disorders, prenatal testing and products of conception. Common constitutional indications are developmental delay, neurologic abnormalities, multiple congenital anomalies, dysmorphic features and cardiac abnormalities. Prenatal CMA is performed for structural fetal anomalies, early onset IUGR, thickened nuchal translucency, abnormal serum screening and advanced maternal age.

Fluorescence In-Situ Hybridization (FISH)

Fluorescence in situ hybridization (FISH) testing is a molecular cytogenetic method that identifies specific structural rearrangements or aneuplodies in interphase nuclei or metaphase chromosomes using fluorescently labeled probes. Molecular cytogenetic analysis via FISH is utilized to establish the diagnosis, determine the classification, and monitor the treatment of a vast number of congenital and acquired chromosome abnormalities.

FISH analysis for some cancers (leukemias, lymphomas and other hematological malignancies) and rapid diagnosis of aneuploidy is typically provided within 24 to 48 hours from receipt of the specimen.