Test Catalog

Test Id : PHAGP

Phagocytic Primary Immunodeficiency Gene Panel, Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of primary immunodeficiency due to phagocytic defects, chronic granulomatous disease, or related disorders

 

Establishing a diagnosis and, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

 

Identifying variants within genes known to be associated primary immunodeficiency due to phagocytic defects, chronic granulomatous disease, or related disorders allowing for predictive testing of at-risk family members

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test uses next-generation sequencing to test for variants in the CEBPE, CSF2RA, CTSC, CYBA, CYBB, FERMT3, FPR1, G6PD, ITGB2, MPO, NCF2, NCF4, PMM2 (CDG1), RASGRP2, SPINK5 genes.

 

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Highlights

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for the genes listed on the panel.

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
FIBR Fibroblast Culture Yes No
CRYOB Cryopreserve for Biochem Studies No No

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For skin biopsy or cultured fibroblast specimens, fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Phagocytic PID Gene Panel

Aliases
Lists additional common names for a test, as an aid in searching

CDG1

CEBPE

Chronic granulomatous disease (CGD)

Congenital disorder of glycosylation (CDG), type Ia

CSF2RA

CTSC

CYBA

CYBB

FERMT3

FPR1

G6PD

Haim-Munk syndrome

Hemolytic anemia

Immunodeficiency 34

ITGB2

Juvenile periodontitis

Leukocyte adhesion deficiency type I

Leukocyte adhesion deficiency type III

MPO

Myeloperoxidase deficiency

NCF2

NCF4

Netherton syndrome

Papillon-Lefevre syndrome

PMM2

Pulmonary alveolar proteinosis

RASGRP2

Specific granule deficiency

SPINK5

Primary Immunodeficiency

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For skin biopsy or cultured fibroblast specimens, fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

Necessary Information

1. Primary Immunodeficiencies Patient Information (T791) is strongly recommended, but not required, to be filled out and sent with the specimen. This information aids in providing a more thorough interpretation of test results. Ordering providers are strongly encouraged to complete the form and send it with the specimen.

2. Include physician name and phone number with specimen.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

 

Submit only 1 of the following specimens:

 

Preferred:

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days

 

Acceptable:

Specimen Type: Blood spot

Supplies: Card-Blood Spot Collection Filter Paper (T493)

Container/Tube:

Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: Whatman FTA Classic paper, Ahlstrom 226 filter paper, or Blood Spot Collection Card

Specimen Volume: 2 to 5 Blood spots on collection card

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year of age is finger stick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Peripheral blood mononuclear cells (PBMC)

Container/Tube: Cell pellet

Collection Instructions: Send as a suspension in freezing medium or cell pellet frozen on dry ice.

Specimen Stability Information: Frozen

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours

Additional Information: Indicate the tests to be performed on the fibroblast culture cells. A separate culture charge will be assessed under FIBR / Fibroblast Culture, Tissue. An additional 4 weeks is required to culture fibroblasts before genetic testing can occur.

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes of culture media can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin)

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional Information: A separate culture charge will be assessed under FIBR / Fibroblast Culture, Tissue. An additional 4 weeks is required to culture fibroblasts before genetic testing can occur.

 

Specimen Type: Extracted DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Primary Immunodeficiencies Patient Information (T791) in Special Instructions.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Whole blood: 1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Varies (preferred)

Useful For
Suggests clinical disorders or settings where the test may be helpful

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of primary immunodeficiency due to phagocytic defects, chronic granulomatous disease, or related disorders

 

Establishing a diagnosis and, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

 

Identifying variants within genes known to be associated primary immunodeficiency due to phagocytic defects, chronic granulomatous disease, or related disorders allowing for predictive testing of at-risk family members

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test uses next-generation sequencing to test for variants in the CEBPE, CSF2RA, CTSC, CYBA, CYBB, FERMT3, FPR1, G6PD, ITGB2, MPO, NCF2, NCF4, PMM2 (CDG1), RASGRP2, SPINK5 genes.

 

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For skin biopsy or cultured fibroblast specimens, fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Primary immunodeficiencies (PID) that affect the function of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) predispose patients to a narrow spectrum of specific infections as a result of impaired killing of bacteria and fungi.

 

Chronic granulomatous disease (CGD), due to impaired production of reactive oxygen intermediates, is characterized by infections (ie, Staphylococcus aureus, Burkholderia cepacia complex, Serratia marcescens, Nocardia, and Aspergillus sp.) that involve the skin, lungs, lymph nodes, liver, and bones, although any organ or tissue can be affected. Patients may also experience immune dysregulation, resulting in granuloma formation, colitis, and other inflammatory disorders. While most affected individuals are diagnosed prior to 5 years of age, patients may present into late adulthood. Tests that measure neutrophil superoxide production by nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, including the dihydrorhodamine (DHR) or nitroblue tetrazolium (NBT) tests, may be used in establishing a diagnosis. X-linked CGD, the most common form, is caused by pathogenic variants in CYBB. In some cases, a contiguous gene deletion may result in CGD along with McLeod neuroacanthocytosis syndrome. In cases of a large contiguous gene deletion, patients may also inherit RPGR-related retinitis pigmentosa, Duchenne muscular dystrophy, and ornithine transcarbamylase deficiency. A chromosomal microarray may be indicated if a contiguous gene deletion is suspected. In addition to the X-linked form, CGD may also be inherited in an autosomal recessive pattern, due to biallelic pathogenic variants in the other genes that encode the remainder of the subunits of phagocyte NADPH, including CYBA, NCF1, NCF2, and NCF4 (Note: NCF1 is not currently included on this panel). Similarly to CGD, complete glucose 6-phosphate dehydrogenase (G6PD) deficiency can result in an increased susceptibility to infection due to impaired neutrophil respiratory burst. G6PD deficiency is also inherited in an X-linked pattern due to pathogenic variants in G6PD. Chronic nonspherocytic hemolytic anemia occurs in severe deficiency, while acute hemolytic episodes (typically triggered by some medications, ingestion of fava beans, viral or bacterial infections, etc) are observed in less severe G6PD deficiency. Patients with myeloperoxidase deficiency also show a reduced ability of the neutrophil to generate a respiratory burst, as evidenced by abnormal DHR results, but show normal superoxide production levels and NBT staining.

 

Neutrophils contain azurophilic (or primary) granules, specific (or secondary) granules, and tertiary granules that contain antimicrobial substances. Azurophilic granules contain myeloperoxidase, bactericidal/permeability-increasing protein, defensins, neutrophil elastase, and cathepsin G. Specific granules contain lactoferrin, lysozyme, NADPH oxidase, alkaline phosphatase, collagenase, histaminase, and cathelicidin. Tertiary granules contain cathepsin, gelatinase, and collagenase. Deficiency of myeloperoxidase can occur as an autosomal recessive condition due to variants in myeloperoxidase (MPO) and results in a susceptibility to Candida infections. Papillon-Lefevre Syndrome (PALS) is an autosomal recessive disorder due to pathogenic variants in CTSC (lysosomal cysteine protease cathepsin C, also known as dipeptidyl peptidase I [DPPI]). DPPI is necessary for posttranslational modification of the serine proteases in the neutrophil azurophilic granules, activation of granzymes A and B of cytotoxic lymphocytes, and activation of mast cell chymases. PALS typically presents with severe periodontal disease and keratosis palmoplantaris, along with mild immunodeficiency. In specific granule deficiency (SGD), neutrophils lack expression of secondary and tertiary granule proteins, have an atypical bilobed nuclear morphology, and demonstrate defects in chemotaxis and bactericidal activity. SGD is due to pathogenic variants in CEBPE, which is a myeloid-specific transcription factor.

 

Leukocyte adhesion deficiencies (LAD) are characterized by recurrent bacterial infections due to reduced ability of neutrophils to adhere to various substances and migrate to sites of infection, as well as defective phagocytic and respiratory burst response to bacteria and yeast. Patients often are first noticed due to omphalitis, but later gingivitis/periodontitis, pneumonia, peritonitis, and deep abscesses may develop. LAD can be caused by pathogenic variants in ITGB2, which encodes for the CD18 antigen (LAD1); and SLC35C1, which encodes for a GDP-fucose transporter (LAD2) (Note: SLC35C1 is not currently included on this panel) or FERMT3 (LAD3). Although the neutrophil functional studies are similar between LAD1 and LAD2, the clinical course in LAD2 is milder, though patients may also present with other features (ie, mental and growth retardation) due to abnormal fucose metabolism. LAD3 presents similarly to LAD1, but platelets are also affected resulting in clotting defects. Pathogenic variants in RASGRP2 (also inherited in a recessive pattern) mimic the phenotype of LAD3. Recessively inherited defects in PMM2 (congenital disorder of glycosylation type IA) show diminished neutrophil chemotaxis resulting in severe infections.

 

Granulocyte-macrophage colony-stimulating factor (GM-CSF) stimulates the formation of colonies of neutrophils and macrophages from bone marrow precursors but is also required for proper neutrophil function. Recessive inheritance of pathogenic variants in CSF2RA, which encodes for the alpha chain of the GM-CSF receptor, disrupts GM-CSF signaling and results in defects in neutrophil adhesion, phagocytosis, superoxide formation, and microbial killing. Clinically, this manifests as pulmonary alveolar proteinosis and increased susceptibility to infections (pulmonary and extrapulmonary).

 

The fMet-Leu-Phe receptor, encoded by FPR1, is located on the cell surface, and is involved in chemotaxis phagocytic cells. Variants in FPR1 may present with aggressive periodontitis and FPR1 governs neutrophil function during acute inflammation.

 

Netherton syndrome (NS), due to pathogenic variants in SPINK5 encoding LEKTI (lymphoepithelial Kazal-type-related inhibitor), is characterized by extensive skin inflammation, hair abnormalities, atopic manifestations, and recurrent bacterial infections. Although various immunologic defects have been suggested to contribute to the immune deficiency, in some cases NK cells demonstrate an immature phenotype with impaired degranulation and cytotoxic effects. Patients may also have decreased circulating B cells and elevated IgE and IgA.

 

Table1. Genes included in the Phagocytic / Chronic Granulomatous Disease PID Gene Panel

Gene (alias)

Protein

OMIM

Inheritance

Phenotype disorder

CEBPE

CCAAT/enhancer-binding protein epsilon

600749

AR

Specific granule deficiency

CSF2RA

Granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

306250

XL

Pulmonary surfactant metabolism dysfunction 4 (SMDP4),

pulmonary alveolar proteinosis

CTSC

Dipeptidyl peptidase 1 isoform a preproprotein

602365

AR

Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis 1, juvenile

CYBA

Cytochrome b-245 light chain

608508

AR

Chronic granulomatous disease

CYBB

Cytochrome b-245 heavy chain

300481

XL

Chronic granulomatous disease, immunodeficiency 34, mycobacteriosis

FERMT3

Fermitin family homolog 3 short form

607901

AR

Leukocyte adhesion deficiency, type III

FPR1

fMet-Leu-Phe receptor

136537

AR

Juvenile periodontitis

G6PD

Glucose-6-phosphate 1-dehydrogenase isoform b

305900

XL

Hemolytic anemia, chronic granulomatous disease

ITGB2

Integrin beta-2 precursor

600065

AR

Leukocyte adhesion deficiency type 1

MPO

Myeloperoxidase precursor

606989

AR

Myeloperoxidase deficiency

NCF2

Neutrophil cytosol factor 2 isoform 1

608515

AR

Chronic granulomatous disease

NCF4

Neutrophil cytosol factor 4 isoform 2

601488

AR

Chronic granulomatous disease

PMM2 (CDG1)

Phosphomannomutase 2

601785

AR

Congenital disorder of glycosylation, type Ia

RASGRP2

RAS guanyl-releasing protein 2 isoform a

605577

AR

Bleeding disorder, platelet-type, 18, LAD-III

SPINK5

Serine protease inhibitor Kazal-type 5 isoform b preproprotein

605010

AD/AR

Atopy(AD), Netherton syndrome (AR)

AD=autosomal dominant

AR=autosomal recessive

XL=X-linked

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

Evaluation and categorization of variants is performed using the most recent published American College of Medical Genetics and Genomics (ACMG) recommendations as a guideline. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

 

Multiple in silico evaluation tools may be used to assist in the interpretation of these results. The accuracy of predictions made by in silico evaluation tools is highly dependent upon the data available for a given gene, and predictions made by these tools may change over time. Results from in silico evaluation tools should be interpreted with caution and professional clinical judgment.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Clinical Correlations:

This panel contains genes that are primarily associated with a phagocytic defect (including chronic granulomatous disease). Although leukocyte adhesion deficiency types 1 and 3 are included, type 2 is not. In addition, due to phenotypic overlap, PMM2 is included in this panel.

 

Some individuals who have involvement of one or more of the genes on the panel may have a variant that is not identified by the methods performed (eg, promoter variants, deep intronic variants). The absence of a variant, therefore, does not eliminate the possibility of disease. Test results should be interpreted in context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

 

For predictive testing of asymptomatic individuals, it is often useful to first test an affected family member. Identification of a pathogenic variant in an affected individual allows for more informative testing of at-risk individuals.

 

Technical Limitations:

Next-generation sequencing may not detect all types of genetic variants. The variant detection software has lower detection efficiency for insertion/deletion variants as compared to single nucleotide variants. Therefore, small deletions and insertions greater than 8 nucleotides in length may not be detected by this test. Copy number variations (CNV) are not currently reported for any of the genes on this panel. Additionally, rare alterations (ie, polymorphisms) may be present that could lead to false-negative or false-positive results. In some cases, DNA variants of undetermined significance may be identified. If results do not match clinical findings, consider alternative methods for analyzing these genes, such as Sanger sequencing or large deletion/duplication analysis. If the patient has had an allogeneic blood or bone marrow transplant or a recent (ie, <6 weeks from time of sample collection) heterologous blood transfusion, results may be inaccurate due to the presence of donor DNA. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

 

Reclassification of Variants-Policy:

At this time, it is not standard practice for the laboratory to systematically review likely deleterious alterations or variants of uncertain significance that are detected and reported. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time. Consultation with a healthcare provider, or team of healthcare providers, with expertise in genetics and primary immunodeficiencies, is recommended for interpretation of this result.

 

A list of benign and likely benign variants detected for this patient is available from the lab upon request.

 

Contact the laboratory if additional information is required regarding the transcript or human genome assembly used for the analysis of this patient's results.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Picard C, Gaspar HB, Al-Herz W, et al: International Union of Immunological Societies: 2017 Primary Immunodeficiency Disease Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018 Jan;38(1):96-128

2. Roos D, de Boer M: Molecular diagnosis of chronic granulomatous disease. Clin Exp Immunol. 2014 Feb;175(2):139-149

3. Hanna S, Etzioni A: Leukocyte adhesion deficiencies. Ann N Y Acad Sci. 2012 Feb;1250:50-55)

4. Taqhizade-Mortezaee F, Esmaeli B, Badalzadeh M, et al: Investigation of ITGB2 gene in 12 new cases of leukocyte adhesion deficiency-type I revealed four novel mutations from Iran. Arch Iran Med. 2015 Nov;18(11):760-764

5. Trapnell BC, Carey BC, Uchida K, Suzuki T: Pulmonary alveolar proteinosis, a primary immunodeficiency of impaired GM-CSF stimulation of macrophages. Curr Opin Immunol. 2009 Oct;21(5):514-521

6. Gombart AF, Koeffler HP: Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). Curr Opin Hematol. 2002 Jan;9(1):36-42

7. Nagy N, Valyi P, Csoma Z, et al: CTSC and Papillon-Lefevre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update. Mol Genet Genomic Med. 2014 May;2(3):217-228

8. Lozano ML, Cook A, Bastida JM, et al: Novel mutations in RASGRP2, which encodes CALDAG-GEF1, abrogate Rap1 activation, causing platelet dysfunction. Blood. 2016 Sep 1;128(9):1282-1289

9. Pasvolsky R, Feigelson SW, Kilic SS, et al: A LAD-III syndrome is associated with defective expression of the Rap1 activator CALDAG-GEF1 in lymphocytes, neutrophils and platelets. J Exp Med. 2007 Jul 9;204(7):1571-1582

10. Notarangelo LD, Pessach I: Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis. J Exp Med. 2008 Nov 24;205(12):2693-2697

11. Kuhns DB, Alvord WG, Heller T: Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010 Dec 30;363(27):2600-2610

12. Dorward DA, Lucas CD, Chapman GB, Haslett C, Dhaliwal K, Rossie AG: The role of formylated peptides and formyl peptide receptor 1 in governing neutrophil function during acute inflammation. Am J Pathol. 2015 May;185(5):1172-1184

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Next-generation sequencing (NGS) is performed using an Illumina instrument with paired-end reads. The DNA is prepared for NGS using a custom Agilent SureSelect Target Enrichment System. Data is analyzed with a bioinformatics software pipeline. Supplemental Sanger sequencing may be performed occasionally in regions where NGS is insufficient for data capture or not specific enough to correctly identify a variant.(Unpublished Mayo method)

 

Genes analyzed: CEBPE, CSF2RA, CTSC, CYBA, CYBB, FERMT3, FPR1, G6PD, ITGB2, MPO, NCF2, NCF4, PMM2 (CDG1), RASGRP2, SPINK5

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

4 to 8 weeks

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Extracted DNA: 2 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics 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.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81479

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
PHAGP Phagocytic PID Gene Panel In Process
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
BA3902 Gene(s) Evaluated 48018-6
BA3903 Result Summary 50397-9
BA3904 Result Details 82939-0
BA3905 Interpretation 69047-9
BA3906 Additional Information 48767-8
BA3907 Method 85069-3
BA3908 Disclaimer 62364-5
BA3909 Reviewed by 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports