Search our extensive Laboratory Test Directory to find test codes, ordering recommendations, specimen stability information, Test Fact Sheets, and more.
Recommendations when to order or not order the test. May include related or preferred tests.
Preferred test to assess for copy number variants and absence of heterozygosity in critically ill newborn patients (<3 months old). Required to be ordered in conjunction with Rapid Whole Genome Sequencing (3005935).
New York DOH Approval Status
Indicates whether a test has been approved by the New York State Department of Health.
This test is not New York state approved.
Specimen Required
Patient PreparationInstructions patient must follow before/during specimen collection.
IF Buccal swab: Patient should not eat, drink, smoke or chew gum for 30 minutes before collecting oral sample.
CollectSpecimen type to collect. May include collection media, tubes, kits, etc.
Peripheral blood or cord blood collected in lavender (K2EDTA). OR Buccal swab: collect one buccal swab using the ORAcollect Collection Kit (ARUP supply #49295). Available online through eSupply using ARUP Connect or contact ARUP Client Services at 800-522-2787
Specimen PreparationInstructions for specimen prep before/after collection and prior to transport.
Whole Blood: Transport 3 mL. (Min: 0.5 mL) Buccal Swab: ensure the sponge tip does not come in contact with any surface prior to collection. Transport buccal swab in ORAcollect Collection Kit.
Storage/Transport TemperaturePreferred temperatures for storage prior to and during shipping to ARUP. See Stability for additional info.
Preferred transport temp: Room temperature.
Unacceptable ConditionsCommon conditions under which a specimen will be rejected.
Frozen or clotted specimens
RemarksAdditional specimen collection, transport, or test submission information.
StabilityAcceptable times/temperatures for specimens. Times include storage and transport time to ARUP.
Expected turnaround time for a result, beginning when ARUP has received the specimen.
5-7 days
Reference Interval
Normal range/expected value(s) for a specific disease state. May also include abnormal ranges.
Interpretive Data
May include disease information, patient result explanation, recommendations, or details of testing.
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Additional information related to the test.
Hotline History
N/A
CPT Codes
The 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.
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