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Cytogenetics Lab Tests


The Yale Cytogenetics Lab provides an array of testing services. Our services include routine chromosome karyotyping, fluorescence in situ hybridization (FISH) and advanced array comparative genomic hybridization (aCGH) diagnostics.

Types of specimens processed include blood, amniotic fluid, chorionic villus, products of conception, bone marrow, skin and solid tumor samples from clinicians as well as various cell lines and tissues from researchers. We provide state-of-the-art services with fast turnaround time and competitive prices.

Each of our services is outline below. To requisition a test, please use the applicable forms located on the right of this page.

For sample submission instructions, please click here.

Requisition Forms

Prenatal Chromosome Studies

Amniotic fluid cytogenetic evaluation is appropriate for indications of advanced maternal age, abnormal ultrasound findings and other genetic concerns at 15-20 weeks gestation. Supply 15-25 ml of amniotic fluid in sterile 15 ml conical tubes. Please provide clinical indication and gestational age. Average turnaround time is 10-14 days.

Chorionic villus cytogenetic evaluation provides earlier detection of cytogenetic abnormalities at 10-13 weeks gestation. Supply 15-40 mg of villi in RPMI media along with clinical indication. Average turnaround time is 7-10 days.

Product of conception cytogenetic evaluation is appropriate in cases with multiple fetal losses or a suspected chromosomal cause of fetal loss/abnormalities. The ideal sample would include both chorionic villus and fetal tissue. Place sample in sterile mammalian culture medium i.e. RPMI or HEPES (if not available, contact lab for transport medium – do not immerse in saline). Average turnaround time is 2-4 weeks.