Ordering Recommendation

Consultation with an ARUP genetic counselor is advised; please call 800-242-2787 ext. 5100. 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. May be ordered to assess for large deletions/duplications in a gene of interest when a previous sequencing result was not diagnostic. May be used to identify HBB gene deletions associated with elevated hemoglobin F (such as in hereditary persistence of fetal hemoglobin [HPFH] or delta beta thalassemia) or to confirm gene fusion hemoglobin variants (eg, hemoglobin Lepore). May be used as an initial diagnostic test in individuals with a suspected SHOX-related disorder or in those with a known family history of large deletions or duplications in the SHOX gene; the preferred test for initial diagnosis is SHOX Deficiency Disorders, Sequencing and Deletion/Duplication (3004603).


New York DOH Approval Status

This test is not New York state approved. Alternative testing that is New York approved is available. See Ordering Recommendations.

Specimen Required

Patient Preparation

Contact ARUP's genetic counselor at 800-242-2787 ext. 5100 prior to test submission. A disease-specific patient history form is available at https://ltd.aruplab.com/api/ltd/pdf/104

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.



Multiplex Ligation-Dependent Probe Amplification (MLPA)




7-14 days

Reference Interval

Interpretive Data

Refer to report.

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