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Early-onset Coronary Heart Disease/Familial Hypercholesterolemia: APOB (Single Exon Sequencing)
Test Code252392
CPT Codes
81479
Includes
This test covers the region of APOB where all disease associated mutations have been found (within a 200-nucleotide region in exon 26 of APOB)
Preferred Specimen
Whole blood; DNA is accepted (Call Correlagen at 781-647-0604 for DNA collection information.)
Minimum Volume
2 mL
Instructions
"In cases in which there is a known mutation that can be documented, the physician may prefer to order test 252644.
For all Correlagen tests, specimens must be accompanied by a completed consent form. In the case of family tests (ie, known mutations), Correlagen requires the result report of the first patient tested in the family (the index case), if not performed at Correlagen. Other family members are subsequently tested for the specific mutation found in the first patient tested.
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For all Correlagen tests, specimens must be accompanied by a completed consent form. In the case of family tests (ie, known mutations), Correlagen requires the result report of the first patient tested in the family (the index case), if not performed at Correlagen. Other family members are subsequently tested for the specific mutation found in the first patient tested.
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Transport Container
Lavender-top (EDTA) tube
Transport Temperature
"Samples may be stored for brief periods at 4°C. Ship overnight at room temperature. Maintain specimen at room temperature.
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Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Container broken or leaking; container not labeled or label not legible
Methodology
DNA sequencing
FDA Status
It has not been cleared or approved by the US Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary.
Limitations
This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
