Test Name & Code:
• Test Name: Familial Hypercholesterolemia Genetic Panel
• Test Code: 3880
• Test Code: 3880
Related Diseases & Genes:
• HYPERCHOLESTEROLEMIA, FAMILIAL (OMIM #: 143890) || Gene: LDLR (OMIM #: 606945)
• Hypercholesterolemia, familial, 3 (OMIM #: 603776) || Gene: PCSK9 (OMIM #: 607786)
• Hyperlipoproteinemia, type III (OMIM #: ) || Gene: APOE (OMIM #: 107741)
• Hypercholesterolemia, due to ligand-defective apo B (OMIM #: 144010) || Gene: APOB (OMIM #: 107730)
• Hypobetalipoproteinemia (OMIM #: 615558)
• Hypercholesterolemia, familial, 3 (OMIM #: 603776) || Gene: PCSK9 (OMIM #: 607786)
• Hyperlipoproteinemia, type III (OMIM #: ) || Gene: APOE (OMIM #: 107741)
• Hypercholesterolemia, due to ligand-defective apo B (OMIM #: 144010) || Gene: APOB (OMIM #: 107730)
• Hypobetalipoproteinemia (OMIM #: 615558)
Synonyms:
• FHC; FH
• LDL RECEPTOR DISORDER
• LDL RECEPTOR DISORDER
Test Details:
• Methodology: Next Generation DNA Sequencing
• Performed: Everyday
• Reported: 4 weeks
• Performed: Everyday
• Reported: 4 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Cardiology
