Ordering Recommendation

Consultation with an ARUP genetic counselor is advised; please call 800-242-2787 ext. 2141.

The gene(s) of interest must be specified with order. Testing is only available for the following genes: F8, HBB, MLH1, MSH2, MSH6, SDHB, SDHC, SDHD, and SHOX

Recommended test to assess for a large deletion or duplication previously detected in a family member. A copy of the family member's test result is required and a control sample from the affected family member is highly recommended (order Sequencing Control, ARUP test code 0051610). Test may be ordered to assess for large deletions/duplications in a gene of interest when a previous sequencing result was not diagnostic.





Multiplex Ligation-dependent Probe Amplification




7-14 days

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation

Contact ARUP's genetic counselor at (800) 242-2787 extension 2141 prior to test submission. Disease-specific patient history forms are available at www.aruplab.com/Testing-Information/consentforms-patienthistory.jsp

Specimen Preparation
Storage/Transport Temperature
Unacceptable Conditions

Submission of a completed patient history form is required. If testing is ordered to assess for a large deletion/duplication previously identified in a family member, submission of the family member's laboratory report is required. Testing will begin once all required documentation is received.


Reference Interval

Interpretive Data

Refer to report.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)


Deletion/duplication analysis by MLPA is offered for the following genes: F8, HBB, MLH1/MSH2, MSH6, SDHB, SDHC, SDHD, SHOX

Hotline History


CPT Codes

CPT codes vary based on gene.


Component Test Code* Component Chart Name LOINC
3003145 Deletion/Duplication Interpretation 83006-7
3003146 Deletion/Duplication Gene 83006-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


Deletion/Duplication Analysis by MLPA