Chromosome Analysis
EPIC Test Name [order code]
Chromosome Analysis (Cytogenetics) (YMG) [LAB10403]
Prenatal
Prenatal chromosome analysis is appropriate for indications of advanced maternal age, abnormal ultrasound findings, abnormal screening results, multiple fetal losses, or a suspected chromosomal cause of fetal loss/abnormalities. Chromosome analysis provides detection of numerical and structural abnormalities for the fetus and balanced chromosomal rearrangements in the family.
Amniotic fluid (AF):
Supply 15-25 ml of amniotic fluid in sterile 15 ml conical tubes. Please provide gestational age. Average turnaround time is 10-14 days.Chorionic villus (CVS):
Supply 15-40 mg of villi in RPMI media along with gestational age. Average turnaround time is 7-10 days.Products of conception (POC):
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 or formalin). Please provide gestational age. Average turnaround time is 14-28 days.NOTE: These studies involve culturing of living cells; therefore, turnaround times given represent average times, which are subject to multiple variables.
Chromosome analysis CPT codes:
Amniotic Fluid: 88235, 88269, 88291
Chorionic Villus: 88235, 88267, 88291
Products of Conception: 88233, 88262, 88291
Note: additional codes may be used for extended analyses (rule out mosaicism 88263; additional karyotypes 88280; additional cell counts 88285)
Postnatal
Chromosome analysis is indicated for patients with suspected chromosomal abnormalities, family history of a chromosome abnormality, primary or secondary amenorrhea, couples experiencing multiple pregnancy losses or infertility, etc. Supply blood in sodium heparin vacutainer (green top) – 3-5 ml total should be sufficient to perform all requested cytogenetics testing. Average turnaround time for routine chromosome analysis is 3-14 days.
Cytogenetic analysis from skin biopsies is indicated for suspicion of mosaicism and cases such as Pallister-Killian syndrome. Ideal sample is a sterile punch biopsy including some dermal tissue. Place sample in sterile mammalian culture medium (if not available, contact lab for transport medium – do not immerse in saline). Average turnaround time is 2-4 weeks.
NOTE: These studies involve culturing of living cells; therefore, turnaround times given represent average times, which are subject to multiple variables.
Chromosome analysis CPT codes:
Peripheral/fetal/cord blood: 88230, 88262, 88291
Fibroblast: 88233, 88262, 88291
Note: additional codes may be used for extended analyses (rule out mosaicism 88263; additional karyotypes 88280; additional cell counts 88285)