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.
Massively Parallel Sequencing
Lavender (EDTA). Peripheral blood required.
AND Maternal Specimen: Lavender (EDTA). Peripheral blood required.
AND Paternal Specimen: Lavender (EDTA). Peripheral blood required.
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)
Specimens from both parents must also be submitted for proper interpretation
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
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.
|Component Test Code*||Component Chart Name||LOINC|
|2012850||Rapid Sequencing Specimen|
|2012851||Rapid Sequencing Interpretation|
- Critical Care Sequencing Panel
- Inherited Disease Sequencing Panel
- Neonatal Crisis Sequencing Panel
- NICU Sequencing Panel