Chromosome Five-cell Count Plus Microarray (Reveal®), Whole Blood

Casandra

Casandra Test Code LC74265Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 511535CPT Codes 81229, 88230, 88261

Chromosome Five-cell Count Plus Microarray (Reveal®), Whole Blood

Also known as: Abbreviated Blood Chromosome Analysis, Microarray, Blood (Reveal®), SNP

Clinical Use

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Use

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.

Special Instructions

The test includes two analyses and one karyotype, with a complete Chromosome SNP Microarray Questionnaire recommended upon specimen submission. There is no charge for follow-up parental testing if a child is found with an abnormal array of unknown clinical significance that may be clarified through parental testing.

Limitations

The SNP assay does not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes containing only heterochromatin, or tetraploidy. It was developed and performance characteristics determined by Labcorp, without FDA clearance or approval.

Test Details

Methodology

Microarray

Biomarkers

SNP microarray is performed using the Cytoscan® HD Accel platform, with 743,130 SNP probes and 2,029,441 NPCN probes.

SNP Microarray Analysis

LOINC Codes

Order Codes

62361-1
55199-4
62360-3
62358-7
62365-2
50619-6
31208-2
48672-0
62378-5
62376-9
62357-9

Result Codes

62361-1
55199-4
62360-3
62358-7
62365-2
50619-6
31208-2
48672-0
11502-2

Result Turnaround Time

14-17 days

Specimen

Whole Blood

Volume

5 mL (adults), 2 mL (neonates)

Minimum Volume

2 mL (neonatal)

Container

Green-top (sodium heparin) tube (preferred) or yellow-top (ACD) tube is acceptable

Collection Instructions

Using sterile technique, collect 5 mL of blood into a green-top (sodium heparin) tube or syringe. Invert the tube to prevent coagulation. Send specimens the same day as collected. Improper anticoagulant fixed specimens and/or frozen specimens cannot be processed.