Ordering RecommendationRecommendations when to order or not order the test. May include related or preferred tests.
Submission of parental control samples is required for Exome Sequencing, Trio testing. A completed “Family Member Control History for Exome Sequencing” form and completed “Informed Consent for Exome sequencing” form must be submitted for each parental/relative’s sample to aid in result interpretation for the proband’s exome and to allow for reporting of secondary findings on parents or other relatives serving as controls.
MnemonicUnique test identifier.
TRACKEXADD
MethodologyProcess(es) used to perform the test.
Massively Parallel Sequencing
PerformedDays of the week the test is performed.
Varies
ReportedExpected turnaround time for a result, beginning when ARUP has received the specimen.
4-8 weeks
New York DOH Approval StatusIndicates test has been approved by the New York State Department of Health.
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect
Lavender (K2EDTA) or Yellow (ACD Solution A or B). Peripheral blood required. Contact ARUP's genetic counselor at (800) 242-2787 ext. 2141 if there are questions prior to test submission.
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Remarks
A completed exome consent form and patient history form is required on each parent or family member submitting a control sample.
Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By report
Interpretive DataBackground information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
Compliance Category
Laboratory Developed Test (LDT)
NoteAdditional information related to the test.
Up to four family members may serve as exome sequencing controls for a proband having Exome Sequencing, Trio (2006332). Family members samples are used to aid in interpretation of the proband's exome sequencing data. Secondary findings, including pathogenic variants in genes recommended for analysis by the American College of Medical Genetics (ACMG) and other actionable secondary variants will only be reported for control individuals who complete a separate Exome Sequencing consent form. ACMG genes are only analyzed to the extent that routine exome analysis allows and single disease-causing variants in autosomal recessive ACMG genes are not reported.
CPT CodesThe American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* 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.
AliasesOther names that describe the test. Synonyms.