Sign in →

Test Code NUDT15 Seq NUDT15 Sequencing

Clinical System Name

NUDT15 Sequencing

Synonyms

NUDT15 Seq for Mercaptopurine Intolerance

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 3 - 5 mL

Minimum Vol: 1 mL for small infants

 

Specimen: Bone Marrow

Container(s): Lavender Top/EDTA

Preferred Vol: 3 - 5 mL

Minimum Vol: 1 mL for small infants

 

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 10ug of DNA with a minimum concentration of 50ng/uL

Minimum Vol: 5ug of DNA with a minimum concentration of 50ng/uL

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Deliver blood to Sendouts refrigerator rack. Store labels in the clear plastic box on front of the CPA fridge.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely
Bone Marrow Room temp 1 d
Bone Marrow Refrigerated 4 d
Bone Marrow Frozen N

 

Availability

STAT TAT
N 7-10 d

 

Performing Laboratory

Children's Hospital of Philadelphia (CHOP)

Department

Department:   

Children’s Hospital of Philadelphia

Genomic Diagnostics Laboratory

 3615 Civic Center Blvd., Abramson Research Center, 714

Philadelphia, PA 19104-4302

 

Phone Number:  (215) 590-4452

 

Reference Range

Interpretive report is provided.

Methodology

PCR and Sequencing

Special Instructions

Links to:

CHOP

 

Requisition

Clinical Utility

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.

Send Out Instructions

Reference Test Name: NUDT15 Sequencing
Reference Test Number: NUDT15
Instructions: Ship whole blood & Bone Marrow overnight, ambient temperature. CHOP does NOT accept Saturday delivery.