15q13.2-q13.3 Deletion/Duplication

The deletion is associated with intellectual disability, autism, neuropsychiatric disorder, and mild dysmorphism. It is inherited in a subset of the cases with full penetrance, but variable expressivity.

The duplication is associated with autistic spectrum disorder, neuropsychiatric disorders, and cognitive impairment.

MLPA is utilized to detect this deletion/duplication.

Forms & Docs

Ordering

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Test Code
C0387

Turn Around Time
2-3 weeks

Billing

CPT Code
81479×1

Ordering Guidance

Should not be ordered in conjunction with chromosomal microarray analysis as the CMA is able to detect this microdeletion/duplication syndrome.

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
15q13.2-q13.3

Methods
MLPA