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Test Catalog
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APOB (Hypercholesterolemia) Mutation Analysis |
#893 |
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| Type of Disorder: |
Cholesterol |
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| Typical Presentation: |
Elevated plasma levels of total cholesterol and plasma LDL-cholesterol, tendon xanthomata, premature coronary heart disease (CHD) |
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| Indications for Testing: |
Elevated plasma cholesterol levels
Family history of premature CHD
Family history of hypercholesterolemia |
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| Disease(s) tested for: |
Familial Defective Apolipoprotein B-100 (FDB) |
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| Test Details |
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| Test Code: |
893 |
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| Profiles that contain this test: |
Hypercholesterolemia Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of APOB where all disease associated mutations have been found |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of APOB region containing known FDB-associated mutations |
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| Reference Value: |
No mutation detected |
| CPT Coding |
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The CPT codes provided are based on AMA guidelines
and are for informational purposes only. CPT coding
is the sole responsibility of the billing party.
Please direct any questions regarding coding to
the payer being billed.
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| Stacked CPT Code(s): |
83891(1), 83898(1), 83904(1), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL (pediatric minimum: 2 mL) |
| Collection Tube: |
Yellow or lavender top |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hrs |
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| Storage Conditions: |
For short periods (until shipped) at 4°C |
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| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only |
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| Test Turnaround: |
2 - 8 weeks |
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