Test Directory

Test Code
SNPAF
Test Name
SNP Microarray Abbreviated Chromosomes
CPT Codes
81229
Expected Turnaround Time
10 - 12 days
Clinical Utility
The test allows prenatal detection of chromosomal aneuploidy, and is used to rule out tetraploidy and rearrangements not detected by array, such as balanced translocations and inversions. It also helps to clarify array abnormalities to determine if a structural rearrangement, marker, or isochromosome is present. Array can only provide copy number imbalances and cannot determine structure of an abnormality. The SNP assay 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 and Container Info

Preferred Specimen Type: Amniotic Fluid

Preferred Collection Container: Sterile, Non-additive Container

Desired Specimen Volume: 25 mL

Collection Instructions

Collect amniotic fluid in conical tube via amniocenteses procedure.

Processing and Submission Instructions
Transport Instructions

Transport to the laboratory refrigerated. 

Stability Requirements

Refrigerated

1 week
Causes for Rejection
Quantity not sufficient for analysis (<12 mL of amniotic fluid or DNA quantity <20 ng/μL); bloody sample; gestational age <17 weeks
Methodology
Snp Microarray Analysis Is Performed Using The Cytoscan Hd-Platform
Reference Intervals

See patient report.

Reference Lab
Integrated Genetics