Test Directory

Home Test Search Results Antithrombin III Gene Sequencing
Antithrombin III Gene Sequencing

Justification

SERPINC1 is the gene encoding antithrombin III (AT3) protein. AT3 deficiency is a common cause of inherited thrombophilia and may be as prevalent as 1:2000. Sequencing may help confirm the diagnosis.

STAT: < 48 hours (M-F)

NGS

Draw Tube: Purple Top

Sample Type: EDTA Whole Blood

DRAW KITS AVAILABLE

Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
ALTERNATIVE Cheek swab 2 swab - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised
SPECIAL INSTRUCTIONS -

General Information

METHODOLOGY NGS
STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 5 days (M-F)
ALTERNATIVE NAMES SERPINC1 gene sequencing, AT3 sequencing
DESCRIPTION This test sequences the exons plus 5bp of flanking introns of the SERPINC1 gene which encodes the antithrombin III protein. Sanger sequencing may be used to confirm variants as needed. This test will detect inherited but not acquired antithrombin III deficiency.
LIMITATIONS This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism. This test will detect small indels but may miss larger deletions or duplications. Balanced structural variants will not be detected unless specifically targeted by a custom PCR assay.
NORMAL RANGE Interpretation: Negative
ASSOCIATED TESTING -
REFERENCES

Smith N et al. Antithrombin deficiency: A pediatric disorder. Thromb Res. 2021 Mar 3;202:45-51.
SAMPLE REPORT Upon request
NEW YORK STATE APPROVED No

Test Codes

ORDER CODE P3376
CPT CODE 81479
LOINC CODE 93814-2