Test Directory

This test will detect chromosomal imbalances 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.

Specimen Type: Cultured Amniotic Fluid

Alternate Specimen Type: Cultured CVS

Collection Container: Sterile, Non-additive Container

Desired Specimen Volume: 25 mL

1. Collect amniotic fluid in conical tube via amniocentesis procedure.
2. Concurrent maternal contamination (MCC) studies are required, submit maternal blood (EDTA) under test code MCCAN.

**Requires Integrated Genetics Test Requisition**

1. Transport amniotic fluid in the original collection container.
2. If a chromosome study or prior Cell-free DNA/NIPT studies have been performed, please include a copy of the report. 

Transport to the laboratory refrigerated. 

• Upon receipt, suitability of specimen will be determined by the Cytogenetics laboratory.

See patient report.

This SNP assay does not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes that only contain heterochromatin or tetraploidy.

If cultures are needed and performed by Labcorp, additional days will be required to complete testing. A delay notification will be sent to the client if cultures are necessary.