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Athena #895 Hypercholesterolemia Eval
MessageHemolysis may compromise DNA recovery after 48 hrs
Test Code
895
CPT Codes
81401(1), 81406(1)
Includes
LDLR (Hypercholesterolemia) DNA Sequencing Test, ApoB Mutation Analysis
Preferred Specimen
whole Blood
Minimum Volume
10 mL (pediatric minimum: 2 mL)
Instructions
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection)
Transport Container
yellow or lav(EDTA)
Transport Temperature
Room Temp
Specimen Stability
Refrigerated For short periods (until shipped) at 4°C
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
freezing
Methodology
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of gene
Setup Schedule
M-Th
Report Available
28 days
Reference Range
No mutation detected
Clinical Significance
"Type of Disorder: Cholesterol
Typical Presentation: Elevated plasma levels of total cholesterol and plasma LDL-cholesterol, tendon xanthomata, premature coronary heart disease (CHD)
Indications for Testing: Elevated plasma cholesterol levels, family history of premature CHD, family history of hypercholesterolemia
Disease(s) tested for: Familial Hypercholesterolemia
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequence of LDLR and in the region of APOB where all disease associated mutations have been found"
Typical Presentation: Elevated plasma levels of total cholesterol and plasma LDL-cholesterol, tendon xanthomata, premature coronary heart disease (CHD)
Indications for Testing: Elevated plasma cholesterol levels, family history of premature CHD, family history of hypercholesterolemia
Disease(s) tested for: Familial Hypercholesterolemia
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequence of LDLR and in the region of APOB where all disease associated mutations have been found"
