Chromosome Analysis, Products of Conception (POC) With Reflex to SNP Microarray (Reveal®)

Clinical Use

Use

Evaluate possible chromosomal abnormalities as cause of miscarriage. The SNP assay will detect chromosomal imbalance that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent. It will also allow the detection of complete or partial molar pregnancies.

Special Instructions

Not provided.

Limitations

Some products of conception may only contain maternal tissue, which might affect results. SNP assays do not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes that only contain heterochromatin, or tetraploidy. Truly balanced chromosome alterations might not be detected, and the threshold for detecting mosaicism is variable. Empirical studies have noted that mosaicism of whole chromosome 22 can go undetected below 10%.

Test Details

Methodology

Chromosomal / Cytogenetics (Microarray)

Biomarkers

X chromosome

ChromosomeSex chromosome

Monosomy X (Turner Syndrome)

Copy Number Alteration • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

96984-0 - Chrom analy POC Microarray

Result Codes

62357-9 - Chrom analy overall interp-Imp
48002-0 - Genomic source class
48672-0 - Clinical cytogeneticist Spec
62361-1 - Cells counted
55199-4 - Cells karyotyped.total Bld/T
62360-3 - Cells analyzed
62358-7 - ISCN band level Ql
62356-1 - Chrom analy result (ISCN)

Result Turnaround Time

13-24 days

Specimen

Tissue (Fresh)

Volume

2 to 4 mm³

Minimum Volume

Not provided

Container

Sterile tube with sterile Ringer's lactate, Hanks' basal salt solution, or Labcorp transport medium

Collection Instructions

Aseptically obtain a small piece of tissue with subepidermal layers. Best results are obtained from placental villi. Submit biopsies in a sterile tube with sterile Ringer's lactate, Hanks' balanced salt solution, or Labcorp transport media. Avoid gross contamination, necrotic tissue, and fixatives.