Ordering Recommendation

Use to confirm diagnosis of familial hypercholesterolemia (FH).

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

Refer to report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: APOB , LDLR , LDLRAP1 , PCSK9.

When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.

Hotline History

N/A

CPT Codes

81407; 81479; 81406

Components

Component Test Code* Component Chart Name LOINC
3002111 Familial Hypercholesterolemia Interp 35474-6
3002112 Familial Hypercholesterolemia Specimen 31208-2
* 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.

Aliases

  • familial defective apoB
  • FH
  • heterozygous familial hypercholesterolemia (HeFH)
  • homozygous familial hypercholesterolemia (HoFH)
Familial Hypercholesterolemia Panel, Sequencing