Laboratory testing for disorders of neutrophil number or function

Diagnosis	Initial testing	Genetic testing*	Additional details
Disorders of neutrophil number
Severe congenital neutropenia (SCN)	CBC, BM evaluation	ELANE (mutation in approximately 60%), TCIRG1, G6PC3, GFI1, WAS, CSF3R, HAX1^¶; 20 to 30% do not have a mutation identified	CBC shows isolated neutropenia BM shows promyelocytic (progranulocyte) arrest
Cyclic neutropenia (CN)	Serial CBCs (eg, two times per week)	ELANE mutation in approximately 90%	CBC shows isolated neutropenia with a characteristic periodicity (eg, absolute neutrophil count <200/microL for two to four days). BM not helpful.
MonoMAC	CBC, lymphocyte subsets	GATA2 mutation in approximately 80%	Varying neutropenia, severe monocytopenia, NK cell cytopenia, B cell lymphopenia
Shwachman-Diamond syndrome (SDS)	CBC, tests of exocrine pancreatic function, BM evaluation	SBDS mutation in approximately 80%	CBC shows isolated neutropenia or pancytopenia BM shows decreased cellularity; laboratory tests show exocrine pancreatic dysfunction
Disorders of neutrophil function
Chediak-Higashi syndrome (CHS)	CBC, BM evaluation	LYST mutation in approximately 80%	Characteristic very large granules in leukocytes
Leukocyte adhesion deficiency-I (LAD-I)	CBC, flow cytometry for deficiency of CD11b/CD18	ITGB2 mutation in over 90%	Neutrophilic leukocytosis, omphalitis in newborn period
Leukocyte adhesion deficiency-II (LAD-II)	CBC, flow cytometry for deficiency of CD15a/SLeX	GDP-fucose transporter	Dysmorphic, neuro development problems
Chronic granulomatous disease (CGD)	Flow cytometry using dihydrorhodamine (DHR) fluorescence; NBT slide test	CYBB, NCF1, CYBA, or NCF2 mutation in most cases
Neutrophil specific granule deficiency	CBC	C/EBP-epsilon	Bilobed neutrophils (pseudo Pelger-Huet anomaly) that lack granules
Hyperimmunoglobulin E (IgE) syndrome (Job syndrome)	CBC, IgE levels, Th-17 cell count	STAT3

Refer to UpToDate topics on laboratory testing of neutrophil function and on specific disorders for further details.

CBC: complete blood count with exam of smear; BM: bone marrow; ANC: absolute neutrophil count; NBT: nitro blue tetrazolium.
* The genetic disorders associated with neutropenia or neutrophil dysfunction syndromes can be diagnosed with reasonable certainty by combinations of the tests listed above, which are available through certified clinical reference laboratories. Refer to UpToDate topics on neutropenia and neutrophil dysfunction for details and caveats regarding testing and additional clinical features of these syndromes.
¶ HAX1 mutation is rare and essentially only seen in consanguineous pairings.

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Laboratory testing for disorders of neutrophil number or function