Ordering Recommendation

Consider 12-18 months after performance of exome sequencing (3016583), if causative variant(s) explaining the patient’s presentation were not identified. Exome Reanalysis can only be performed if the original exome testing was ordered from ARUP Laboratories after April 1, 2015.

New York DOH Approval Status

This test is not New York state approved. ARUP cannot facilitate testing for New York state clients. Please work directly with a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

No new specimen is required to process this test; please release test order to ARUP upon order.

New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York-approved laboratory.

Specimen Preparation
Storage/Transport Temperature
Unacceptable Conditions
Remarks

Patient History Form for Exome/Genome Reanalysis (REQUIRED): fax to Genetic Counselors at 801-584-5236.

Stability

Methodology

Bioinformatic Processing and Variant Analysis

Performed

Varies

Reported

14-21 days

Reference Interval

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Only the proband will receive an updated report. The most current list of American College of Medical Genetics and Genomics (ACMG) recommended genes will be examined for the proband if consent for reporting of secondary findings was originally provided. Please see the Exome/Genome Reanalysis Patient History form for a description of variant types reported at reanalysis.

Hotline History

N/A

CPT Codes

81417

Components

Component Test Code* Component Chart Name LOINC
3001458 Exome Reanalysis Interpretation
* 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

  • Exome Reanalysis
Exome Reanalysis (Originally Tested at ARUP - No Specimen Required)