Cytogenomic SNP Microarray Buccal Swab

Casandra

Casandra Test Code AR54468Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2006267CPT Code 81229

Cytogenomic SNP Microarray Buccal Swab

Also known as: CMA BUCCAL

Clinical Use

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Use

The Cytogenomic SNP Microarray Buccal Swab is preferred as a first-tier test for the evaluation of developmental delay, multiple anomalies, and autism spectrum disorders. The test detects DNA copy number variations and regions of homozygosity, aiding in the identification of underlying genetic contributors to these conditions. Clinical insights gained from this test are instrumental in providing patient-specific information that can be pivotal for diagnosis, management, and genetic counseling.

Special Instructions

This test is not approved in New York State and requires the submission of a Non-Permitted Laboratory Request Form (NPL) to the NYDOH prior to collection. Additionally, informed consent for genetic testing is recommended. The test must be ordered using a Cytogenetic test request form 43097 or through the ARUP interface, and a Genomic Microarray Patient Clinical Information Form should accompany the order.

Limitations

The test cannot provide structural information related to genomic imbalances, necessitating additional cytogenetic testing such as chromosome analysis or FISH. Not all genomic alterations can be detected, including low-level mosaicism, balanced chromosomal rearrangements, and sequence-level variants. The analysis detects CNVs greater than 50 kb for losses and 400 kb for gains and may not identify CNVs below these thresholds.

Test Details

Methodology

Microarray

Biomarkers

Unknown CNV

Copy Number Region

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

LOINC Codes

Order Codes

62375-1

Result Turnaround Time

10-14 days

Specimen

Buccal Swab

Volume

Not provided

Minimum Volume

Not provided

Container

ORAcollect Collection kit

Collection Instructions

Collect one buccal swab using the Oracollect collection kit, ensuring the sponge tip does not come into contact with any surface. Donor should avoid eating, drinking, smoking, or chewing gum for 30 minutes before collection.