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ADAMTS13 Gene Sequencing


Congenital Thrombotic Thrombocytopenic Purpura (cTTP) can be rapidly diagnosed with this test. Severe deficiency of ADAMTS13 activity, negative for an inhibitor, represent putative cases of Upshaw-Schulman syndrome; this autosomal recessive inherited form of TTP can be confirmed by gene sequencing.

STAT: < 48 hours (M-F)


Draw Tube: Purple Top

Sample Type: EDTA Whole Blood


Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
Frozen (-20C): 2 weeks
Frozen (-80C): 6 months
ALTERNATIVE Cheek swab 2 swab - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised
SPECIAL INSTRUCTIONS Post bone marrow transplant (post-BMT) patients require a cheek swab sample to test the transplant recipient; post-BMT patients require a venous blood sample to test the bone marrow donor.

General Information

STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 5 days (M-F)
ALTERNATIVE NAMES Upshaw-Schulman Syndrome Genetic Testing; inherited thrombotic thrombocytopenic purpura (TTP), ADAMTS-13 gene sequencing
DESCRIPTION All exons of ADAMTS13 plus 5bp of the flanking introns are sequenced. Sanger sequencing may be used to confirm variants as needed.
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

1. Pérez-Rodríguez A, et al. Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review. Thromb Res. 2014 Dec;134(6):1171-5.
2. Moake, MD. Thrombotic microangiopathies. NEJM. 2002;347(8):589-600.
3. Tsai, HM. Autoimmune Thrombotic Microangiopathy: Advances in Pathogenesis, Diagnosis, and Management. Semin Thromb Hemost. 2012;38(05):469-482.
4. Sahud, M, Ero, M, et al. von Willebrand Factor-cleaving protease inhibitor in a patient with human immunodeficiency syndrome-associated thrombotic thrombocytopenic purpura. British Journal of Haematology.

SAMPLE REPORT Upon request

Test Codes

CPT CODE 81479
LOINC CODE 99960-7