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Test Code DHRP Dihydrorhodamine Flow Cytometric Phorbol Myristate Acetate Test, Blood

Useful For

Evaluating chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, complete myeloperoxidase deficiency

 

Monitoring chimerism and nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function post-hematopoietic cell transplantation

 

Assessing residual NADPH oxidase activity pretransplant

 

Identifying female carriers for X-linked CGD

 

Assessing changes in lyonization with age in female carriers

Reporting Name

DHR Flow PMA, B

Specimen Type

WB Sodium Heparin


Shipping Instructions


Testing is performed Monday through Friday. Specimens not received by 4 p.m. (CST) on Friday may be canceled.

 

Collect and package specimen as close to shipping time as possible. Ship specimen overnight in an Ambient Shipping Box-Critical Specimens Only (T668) following the instructions in the box. It is recommended that specimens arrive within 24 hours of collection.

 

Specimens arriving on the weekend and observed holidays may be canceled.



Necessary Information


Ordering healthcare professional name and phone number are required.



Specimen Required


Two whole blood sodium heparin specimens are required, one from the testing patient and the other from an unrelated healthy donor as a control.

 

Supplies: Ambient Shipping Box-Critical Specimens Only (T668)

 

Patient:

Container/Tube: Green top (sodium heparin)

Specimen Volume: 5 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.

 

Normal Control:

Container/Tube: Green top (sodium heparin)

Specimen Volume: 5 mL

Collection Instructions:

1. Collect a control specimen from the unrelated healthy donor within an hour of the patient's specimen collection time.

2. Label clearly with Normal Control and the corresponding patient information.

3. Send the whole blood specimen in the original tube. Do not aliquot.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
WB Sodium Heparin Ambient 48 hours GREEN TOP/HEP

Reject Due To

Gross hemolysis Reject
Gross lipemia Reject

Reference Values

Result Name

Unit

Cutoff for defining normal

% PMA ox-DHR+

%

≥95%

MFI PMA ox-DHR+

MFI

≥60

Control % PMA ox-DHR+

%

≥95%

Control MFI PMA ox-DHR+

MFI

≥60

 

MFI = mean fluorescence intensity

PMA = phorbol myristate acetate

DHR = dihydrorhodamine

 

The appropriate age-related reference values for Absolute Neutrophil Count will be provided on the report.

Supportive Data

Dihydrorhodamine analysis was performed to assess neutrophil oxidative burst in 157 healthy donors, 74 children, and 83 adults.

Day(s) Performed

Monday through Friday

Report Available

3 to 4 days

Specimen Retention Time

4 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

86352

LOINC Code Information

Test ID Test Order Name Order LOINC Value
DHRP DHR Flow PMA, B 98124-1

 

Result ID Test Result Name Result LOINC Value
ANC Absolute Neutrophil Count 751-8
PMAP % PMA ox-DHR+ 85376-2
PMAM MFI PMA ox-DHR+ 85374-7
ANCC Control Absolute Neutrophil Count 85369-7
PMAPC Control % PMA ox-DHR+ 85377-0
PMAMC Control MFI PMA ox-DHR+ 85375-4
DHRPI Interpretation 69052-9

Genetics Test Information

Approximately 70% of chronic granulomatous disease cases are X-linked and are due to disease-causing variants in the CYBB gene, encoding the gp91phox protein. The following genes may have genetic variants inherited in an autosomal recessive pattern: NCF1 (p47phox), NCF2 (p67phox), CYBA (p22phox), and NCF4 (p40phox). Disease-causing variants in NCF1 account for 25% of cases, while variants in NCF2 and CYBA account for 5% of cases each. Disease-causing variants in the NCF4 gene have been described but are rare.