What Can Be Learned From This Test
Testing is performed by a tiered approach.
Tier 1 includes sequencing exons 1-4, 9-11, and 17 of LDLR, exon 7 of PCSK9, and the portion of exon 26 in APOB containing common pathogenic variants.
Tier 2 includes sequencing the remaining exons of LDLR and PCSK9, an additional fragment of exon 26 of APOB containing other published pathogenic variants, and deletion/ duplication testing of select exons of LDLR and PCSK9.
The sequencing tests will detect point mutations, small deletions, and small insertions. The deletion/ duplication tests may not detect a partial copy number variant, but will detect a whole gene deletion or duplication. Large deletions and duplications in LDLR have been reported.
Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turnaround time: 10-14 business days per tier
CPT Codes and Cost
- Codes: 81401, 81406, 81479
- Cost: $370
- Codes: 81401, 81405, 81406, 81479 x3
- Cost: $1,050
- Codes: 81401, 81405, 81406 x2, 81479
- Cost: $1,420
Known Variant Testing