Deletion/Duplication Analysis by MLPA
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
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
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)
Refer to report.
Laboratory Developed Test (LDT)
Deletion/duplication analysis by MLPA is offered for the following genes: F8, HBB, MLH1/MSH2, MSH6, SDHB, SDHC, SDHD, SHOX
CPT codes vary based on gene.
|Component Test Code*
|Component Chart Name