Chromosome Analysis

EPIC Test Name [order code]
Chromosome Analysis (Cytogenetics) (YMG) [LAB10403]

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)

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)

Bone marrow cytogenetic evaluation is considered appropriate for patients with neoplastic or pre-neoplastic hematological disorders. Supply 1-2 ml of bone marrow aspirate in sodium heparin vacutainer. Average turnaround time is 3-14 days.

Cytogenetic evaluation of lymph node, spleen, or solid tumor samples is appropriate in patients where neoplastic or pre-neoplastic cells are suspected to be present in the biopsied sample. Supply 0.3-1 cubic centimeter sample submerged in sterile culture medium (or a balanced salt solution). Turnaround time varies by specimen from 5-21 days.

Cytogenetic evaluation of unstimulated blood samples is appropriate in patients with acquired hematologic malignancy where sufficient neoplastic or pre-neoplastic cells (blast cells) are detected in peripheral blood. If the neoplasm is of lymphoid origin, then stimulation is needed for B-cells (IL2/IL4/IL2+DSP30) or T-cells (PHA). If the blast count or mitotic index is low in the blood, chromosome analysis may be infeasible, and interphase FISH or microarray could be an alternative. Supply 5-10 ml of peripheral blood in sodium heparin vacutainer. Average turnaround time is 3-14 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:
Leukemic blood/bone marrow/lymph node: 88237, 88264, 88291
Solid tumor: 88239, 88264, 88291

Note: limited study will use CPT code 88261 instead of 88264; additional codes may be used for extended analyses (additional karyotypes 88280; additional cell counts 88285)