Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory Chromosome Analysis

Chromosome Analysis

Test Description:
Chromosome analysis is offered on peripheral blood (PB), amniotic fluid (AF) including AFP analysis, chorionic villi (CVS), products of conception (POC), and skin and other tissue biopsy specimens. For postnatal cases, chromosome analysis is indicated for individuals with multiple congenital anomalies, mental retardation, developmental delay, dysmorphic features, sexual ambiguity, multiple miscarriages, infertility, or fetal demise. For prenatal cases, chromosome analysis is indicated for advanced maternal age, family history of genetic disease or chromosome abnormality, abnormal maternal serum screening and/or abnormal ultrasound findings. For POC specimens, chromosome analysis may provide a diagnosis for fetal demise and identify recurrence risks for chromosome abnormalities in future pregnancies.

Specimen Requirements:
Postnatal: Whole blood in sodium heparin (green top) tube: minimum 5-10 ml
Amnio: minimum 15-20 ml direct fluid in a sterile conical centrifuge tube
CVS: minimum0 4 mg chorionic villi in sterile saline
Tissue Biopsy: 3 mm biopsy in sterile saline
POC: skin, cord, or villi in sterile saline

Shipping: Samples should be received on day of collection. Keep specimens at room temperature.

Turnaround Time:
Blood: 7-14 days
Amnio+AFP: 7-10 days
CVS: 5-10 days
Skin: 10-14 days
POC: 7-14 days

CPT Codes:
Blood: 88230, 88262, 88289, 88291
Amnio: 88235, 88269, 88280, 88285, 88291, 82106
CVS: 88235, 88267, 88280, 88285, 88291
POC/Skin: 88233, 88262, 88291

Consent Forms:
Peripheral Blood Chromosomes and FISH Consent [PDF]
Chorionic Villus Consent [PDF]
Amniotic Fluid Consent [PDF]
Abortus Tissue Consent [PDF]

Requisition Form: General Test Requisition [PDF]