Familial Hypercholesterolemia (FH) Genetic Panel

Synonyms

  • APOB LDLR LDLRAP1 PCSK9
  • FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL
  • LAB14552

Cerner Name

Familial Hypercholesterolemia (FH) Panel

Clinical Info

Molecular confirmation of a clinical diagnosis in symptomatic individualsRisk assessment of asymptomatic family members of a proband diagnosed with FHDifferentiation of FH from acquired (non-genetic) forms of hypercholesterolemiaGenetic counseling and recurrence risk assessment

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

2-5 mL Whole Blood

Container

Lavender Top Tube or Buccal (Oral Cheek Swab)

Collection Instructions

Container/Tube:  Lavender Top Tube
Specimen: 2-5 mL Whole Blood

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Deletion/Duplication AnalysisNext-Gen Sequencing
GeneDx Code J556

Days Performed

TAT: 4 Weeks

Performing Laboratories

GeneDx

CPT

81405
81406 x 2
81407
81479 x 1

PDM

245203

Results
Component Name Base Name Common Name External Name
FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL FHPANEL FAMILIAL HYPERCHOLESTEROLEMIA PANEL Familial Hypercholesterolemia (FH) Panel

Result Interpretation

See Report

Forms
Flow/Mol/Cytog - No Subgroup LAB14552 build edit