Ordering Recommendation

Rapid diagnosis of a critically ill individual suspected to be affected with a Mendelian genetic condition. Parental samples are required to interpret the patient's result.

Mnemonic
RAPID SEQ
Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

2-4 weeks

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

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

Refrigerated.

Unacceptable Conditions
Remarks

Specimens from both parents must also be submitted for proper interpretation

Stability

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

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

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
N/A
CPT Codes

81443

Components
Component Test Code* Component Chart Name LOINC
2012850 Rapid Sequencing Specimen
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.
Aliases
  • Critical Care Sequencing Panel
  • Inherited Disease Sequencing Panel
  • Neonatal Crisis Sequencing Panel
  • NICU Sequencing Panel
Rapid Mendelian Genes Sequencing Panel, Trio