Microarray/Array CGH

EPIC Test Name [order code]
Microarray/Array CGH (Cytogenetics) (YMG) [LAB10401]

Array comparative genomic hybridization (aCGH, CGH+SNP array) and OncoScan Microarray Assay (OMA, SNP array) analyses have been used for prenatal cases with suspected fetal anomalies, as reflex testing for POCs with normal chromosome results, and as a salvage procedure for POCs with cell culture failure.

Microarray test is performed on DNA extracted from cultured amniotic fluid or direct villi/fetal tissue samples. POC microarray is also available on DNA extracted from FFPE tissue. CVS microarray turnaround time is 7-14 days; AF microarray turnaround time is 14-21 days; Reflex POC microarray turnaround time is 14-21 days after chromosome results.

NOTE: Microarray turnaround time assumes insurance prior authorization/approval is in place.

Microarray CPT codes:
aCGH 180K (CGH+SNP Array) (most AF/CVS): 81228
aCGH 400K (CGH+SNP Array) (upon request): 81229
OMA (SNP array) (all POCs): 81228

Chromosomal microarray analysis (CMA) has been recommended as the first-tier genetic evaluation for pediatric patients with multiple congenital anomalies (MCA), dysmorphic features, failure to thrive (FTT), unexplained developmental delay (DD), intellectual disability (ID) and autism spectrum disorders (ASD). Array comparative genomic hybridization with single nucleotide polymorphism (aCGH+SNP) analysis is used to examine the entire genome for pathogenic copy number variant (pCNVs, deletions and duplications), as well as copy neutral regions of homozygosity (ROH) that may be clinically significant. Average turnaround time for aCGH is 10-21 days.

NOTE: Microarray turnaround time assumes insurance prior authorization/approval is in place.

Microarray CPT codes:
Genomic Microarray 180K (aCGH+SNP): 81228
Genomic Microarray 400K (aCGH+SNP): 81229

Chromosomal microarray analysis (CMA) is used to identify somatic copy number aberrations (CNAs) and unbalanced gene rearrangements in cancer-related abnormal clones. CMA has the advantage in identification of cryptic imbalances and detection of clonal aberrations in populations of non-dividing cancer cells and samples with poor chromosome morphology.

Microarray analysis can further define the size, precise breakpoints, and gene content of the clonal abnormalities detected by chromosome analysis; characterize marker chromosomes and unknown chromosome materials involving gene amplification; rule out the presence of cryptic imbalance in apparently balanced rearrangements; detect complex genomic imbalances in chromothripsis; and assess regions of copy-neutral loss of heterozygosity, which is common in neoplasia and often masks homozygous mutations involving oncogenes or tumor suppressor genes.

OncoScan microarray assay (OMA), using molecular Inversion Probe (MIP) technology with enhanced resolution of ~900 cancer genes, offers genome-wide CNAs and CN-LOH detection from either fresh, frozen or paraffin-embedded cancer tissues. Average turnaround time is 10-28 days.

NOTE: Microarray turnaround time assumes insurance prior authorization/approval is in place.

Microarray CPT code:
Neoplasia Microarray (Oncoscan): 81277