Ordering Recommendation

Rapid diagnosis of a critically ill individual suspected to be affected with a Mendelian genetic condition. Parental samples are required to interpret this test; order Genomics Control (2007820) on parental samples. 




Massively Parallel Sequencing




7-14 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

Lavender (EDTA). Peripheral blood required.
AND Maternal Specimen: Lavender (EDTA). Peripheral blood required.
AND Paternal Specimen: Lavender (EDTA). Peripheral blood required.

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)
AND Maternal Specimen: Transport 3 mL whole blood. (Min: 1 mL)
AND Paternal Specimen: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature


Unacceptable Conditions

Specimens from both parents must also be submitted for proper interpretation


Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

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)


The following must be submitted with the test order: Completed Rapid Sequencing consent form signed by a legal guardian and a completed Patient History for Rapid Sequencing form for each specimen. Control specimens from both parents must be submitted and a Genomics Control (ARUP Test Code 2007820) should be also ordered (at no additional charge) to aid in the interpretation of the patient's result. For each parental specimen, please indicate on the test requisition form that the specimen is either a "maternal control" or "paternal control" and clearly reference the patient's name.

Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
2012851 Rapid Sequencing 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.


  • Critical Care Sequencing Panel
  • Inherited Disease Sequencing Panel
  • Neonatal Crisis Sequencing Panel
  • NICU Sequencing Panel
Critically Ill Rapid Genetic Diagnosis Panel, ~5000 Genes