Stimulated lymphocyte culture and chromosome analysis. Fluorescence In Situ Hybridization (FISH) when indicated.
Evaluation of congenital malformations, still birth, mental retardation, growth retardation, infertility, cryptorchidism, hypogonadism, amenorrhea (primary), abnormal/ambiguous genitalia, recurrent miscarriage, Turner syndrome, Klinefelter syndrome, Down syndrome, and other suspected chromosomal disorders.
Interpretive report provided.
Failure of cells to grow in culture precludes analysis.
3 - 4 weeks
- Cytogenetics, Blood, Constitutional
- Karyotype, Routine
- Karyotype, Peripheral Blood
- GENERIC CYTOGENETICS TEST
- Chromosome Analysis for Congenital Disorders
- TISSUE CULTURE-LYMPHOCYTE
- PERIPHERAL TYPE
- Chromosome Analysis, Peripheral Blood for Genetic Disorder (Non-malignant)
Specimen transport should be arranged so that the specimen is received by MLabs the same day it is collected. Call for a STAT courier if necessary. Collect specimen in a green top (sodium heparin) tube. Invert the tube several times to prevent clotting. Send the specimen intact at room temperature as soon as possible. DO NOT CENTRIFUGE.
Appropriate FISH testing will be performed at an additional charge when indicated. FISH testing is available for a wide range of microdeletion syndromes, such as DiGeorge, Prader-Willi, Angelman, Smith-Magenis, Miller-Dieker, and William's Syndrome, as well as for chromosome derivatives or markers (extra chromosome, part of a chromosome, or unbalanced translocation). For additional information on FISH testing and available probes, contact the Cytogenetics Laboratory. When chromosome analysis is requested to rule out certain conditions such as Turner syndrome (when indicated based on initial diagnosis) or suspected mosaicism, an additional cell count and/or special stains will be performed at an additional charge. By ordering this test the clinician acknowledges that additional reflex testing will be performed and billed at a separate additional charge if indicated.