Ordering Recommendation

Consultation with an ARUP genetic counselor is advised (800-242-2787 x2141)

The gene(s) of interest must be specified with order. Testing is only available for the following genes: ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL

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

DELDUP

Methodology

Multiplex Ligation-dependent Probe Amplification

Performed

Sun- Sat

Reported

Within 14 days

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

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

Specimen Preparation
Storage/Transport Temperature
Unacceptable Conditions
Remarks

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.

Stability

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.

Compliance Category

Laboratory Developed Test (LDT)

Note


Deletion/duplication analysis by MLPA is offered for the following genes: ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1/MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL.

Suspected deletions or duplications in exons 12-15 of PMS2, require additional sequencing to exclude pseudogene copy number variants. Additional charges apply.

Hotline History

N/A

CPT Codes

CPT codes vary based on gene.

Components

Component Test Code* Component Chart Name LOINC
3003145 Deletion/Duplication Interpretation 48018-6
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.

Aliases

Deletion/Duplication Analysis by MLPA