Ordering Recommendation

Use to submit parental/familial control samples for Exome Sequencing (3016583). If reporting of secondary findings, including pathogenic variants in the American College of Medical Genetics recommended genes, for parental samples is desired, indicate opt-in status on the Exome Sequencing Intake Form (additional charges apply).


Massively Parallel Sequencing




21-28 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 or pink (EDTA) or yellow (ACD solution A or B). Peripheral blood required. Contact ARUP's genetic counselor at 800-242-2787 ext. 2141 prior to test submission
New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York-approved laboratory.

Specimen Preparation

Transport 2 mL whole blood. (Min: 1.0 mL)

Storage/Transport Temperature


Unacceptable Conditions

This test is used for parental control samples associated with a proband sample submitted for EXOME PRO. If a report for a parental control sample is desired, indicate opt-in status for ACMG secondary findings on the exome sequencing intake form (additional charges apply).


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

Reference Interval


Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)


Parental samples are used to aid in interpretation of the proband's exome sequencing data. Please indicate on the exome sequencing intake form if a report of American College of Medical Genetics and Genomics (ACMG) secondary findings is desired for submitted parental controls (additional charges apply). Please list the name/DOB for parental controls on the exome sequencing intake form.

Hotline History



Component Test Code* Component Chart Name LOINC
3016590 EXOME FRPT Int 86205-2
* 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.


  • ACMG incidental findings
  • ACMG secondary findings
  • Familial exome control
  • Parental exome control
  • WES comparator
Exome Sequencing, Familial Control