For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
3-5 mL
Minimum Required
1mL minimum
Phlebotomy Draw
Yes
Clinical Features
Mercaptopurine, a type of thiopurine drug, is the mainstay of curative therapy for acute lymphoblastic leukemia. To achieve its cytotoxic effects, thiopurines require extensive metabolism in the body. Germline variants in NUDT15 are associated with Mercaptopurine intolerance. NUDT15 polymorphisms are most common in individuals of East Asian descent followed by Hispanics, rare in Europeans, and not observed in Africans. Preemptive genotyping of NUDT15 allows identification of patients who are at risk for increased toxicity resulting from use of MP, so that the starting dose of MP can be appropriately adjusted, or an alternative therapy may be considered.
Performing Lab
Division of Genomic Diagnostics
Performed
Mon-Fri
Methodology
Sequencing
Reported
10 days
Synonyms
NUDTS
LIS Mnemonic
NUDTS
Available STAT
Yes
Test Notes
PCR and Sequencing
Molecular Testing Notes
This test sequence the whole gene and covers all variants associated with 6MP tolerance in addition to the most common ones.
CPT Codes
81306
Billing (EAP) Codes
807243
Collection
Collect
Blood or bone marrow in purple top (EDTA) tube.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
3-5 mL
Minimum Required
1mL minimum
Phlebotomy Draw
Yes
Ordering
Clinical Features
Mercaptopurine, a type of thiopurine drug, is the mainstay of curative therapy for acute lymphoblastic leukemia. To achieve its cytotoxic effects, thiopurines require extensive metabolism in the body. Germline variants in NUDT15 are associated with Mercaptopurine intolerance. NUDT15 polymorphisms are most common in individuals of East Asian descent followed by Hispanics, rare in Europeans, and not observed in Africans. Preemptive genotyping of NUDT15 allows identification of patients who are at risk for increased toxicity resulting from use of MP, so that the starting dose of MP can be appropriately adjusted, or an alternative therapy may be considered.
Performing Lab
Division of Genomic Diagnostics
Performed
Mon-Fri
Methodology
Sequencing
Reported
10 days
Synonyms
NUDTS
LIS Mnemonic
NUDTS
Available STAT
Yes
Test Notes
PCR and Sequencing
Molecular Testing Notes
This test sequence the whole gene and covers all variants associated with 6MP tolerance in addition to the most common ones.
