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.
Mnemonic
Methodology
Multiplex Ligation-dependent Probe Amplification
Performed
Sun-Sat
Reported
7-14 days
New York DOH Approval Status
Specimen Required
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
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.
Laboratory Developed Test (LDT)
Note
Deletion/duplication analysis by MLPA is offered for the following genes: F8, HBB, MLH1/MSH2, MSH6, SDHB, SDHC, SDHD, SHOX
Hotline History
Hotline History
CPT Codes
CPT codes vary based on gene.
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3003145 | Deletion/Duplication Interpretation | 83006-7 |
3003146 | Deletion/Duplication Gene | 83006-7 |