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

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