Deletion/Duplication Analysis by MLPA
Also known as: DELDUP
Use
The Deletion/Duplication Analysis by MLPA is an essential diagnostic tool used to identify large deletions or duplications within specific genes, including F8, HBB, MLH1, MSH2, MSH6, SDHB, SDHC, SDHD, and SHOX. This test is particularly useful for assessing large deletions/duplications previously detected in a family member, confirming gene fusion hemoglobin variants, and as an initial diagnostic test for suspected SHOX-related disorders. It assists clinicians in diagnosing conditions like hemophilia A, hereditary persistence of fetal hemoglobin, and delta beta thalassemia, thereby informing medical screening and management options.
Special Instructions
Consultation with an ARUP genetic counselor is recommended prior to test submission. The gene of interest must be specified when ordering, and a completed patient history form is required. Submission of a family member's laboratory report is necessary for cases assessing previously identified large deletions or duplications. The test cannot be ordered without all required documentation.
Limitations
While the Deletion/Duplication Analysis by MLPA has a high analytical sensitivity and specificity of 99%, it does not detect base pair substitutions, small deletions/duplications, deep intronic or regulatory region variants. Negative results do not exclude the possibility of a diagnosis or carrier status for conditions like hemophilia A, as single exon deletions/duplications might not be detected based on the breakpoints of the rearrangement. Diagnostic errors can occur due to rare sequence variations, and breakpoints for large deletions/duplications will not be determined.
Methodology
Other
Biomarkers
LOINC Codes
- 83006-7
- 83006-7
Result Turnaround Time
7-14 days
Related Documents
For more information, please review the documents below
Not provided.