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Test ID DHR Dihydrorhodamine Flow Cytometric Test, Blood

Useful For

Evaluation of chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, RAC2 deficiency, 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

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 and CYBC1 genes have been described but are rare.

Method Name

Flow Cytometry

Reporting Name

DHR Flow, B

Specimen Type

WB Sodium Heparin


Shipping Instructions


Testing is performed Monday through Friday. Specimens not received by 4 p.m. Central time 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.

 

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

Reference Values

Result name

Unit

Cutoff for defining normal

% PMA ox-DHR+

%

≥95%

MFI PMA ox-DHR+

MFI

≥60

% fMLP ox-DHR+

%

≥10%

MFI fMLP ox-DHR+

MFI

≥2

Control % PMA ox-DHR+

%

≥95%

Control MFI PMA ox-DHR+

MFI

≥60

Control % fMLP ox-DHR+

%

≥10%

Control MFI fMLP ox-DHR+

MFI

≥2

 

PMA = phorbol myristate acetate

DHR = dihydrorhodamine

MFI = mean fluorescence intensity

fMLP = N-formyl-methionyl-leucyl-phenylalanine

 

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

Day(s) Performed

Monday through Friday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

86352 x2

LOINC Code Information

Test ID Test Order Name Order LOINC Value
DHR DHR Flow, B 98122-5

 

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
FMPPP % FMLP ox-DHR+ 85373-9
FMPM MFI fMLP ox-DHR+ 85370-5
ANCC Control Absolute Neutrophil Count 85369-7
PMAPC Control % PMA ox-DHR+ 85377-0
PMAMC Control MFI PMA ox-DHR+ 85375-4
FMPPC Control % fMLP ox-DHR+ 85372-1
FMPMC Control MFI fMLP ox-DHR+ 85371-3
DHRI Interpretation 69052-9

Test Classification

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

Report Available

3 to 4 days

NY State Approved

Yes