Cytogenomic SNP Microarray Buccal Swab
Also known as: CMA BUCCAL
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.
Methodology
Microarray
Biomarkers
LOINC Codes
- 62375-1
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
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.
Patient Preparation
Donor should not eat, drink, smoke or chew gum for 30 minutes before collecting the oral sample.
Storage Instructions
Transport at room temperature.
Causes for Rejection
Specimen exposed to extreme temperatures or collected in/by any device other than the indicated one.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |