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).