Test Catalog

Test Id : AUTOP

Autoinflammatory Primary Immunodeficiency (PID) 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 autoinflammatory syndromes and related disorders

 

Establishing a diagnosis of autoinflammatory disease, and in some cases guiding management and allowing for surveillance of disease features

 

Identification of pathogenic variants within genes known to be associated with autoinflammatory 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 CARD14, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRP12, NLRP3 (CIAS1), NOD2 (CARD15), PLCG2, PSMB8, PSTPIP1 (CD2BP1), RBCK1 (HOIL1), SH3BP2, and TNFRSF1A 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

Autoinflammatory PID Gene Panel

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

Autoinflammation

Autoinflammatory bone disease

Blau syndrome

CARD14

Chronic atypical neutrophilic dermatitis with lipodystrophy (CANDLE)

Chronic infantile neurological cutaneous and articular syndrome (CINCA)

Deficiency of interleukin 1 receptor antagonist (DIRA)

Deficiency of interleukin 36 receptor antagonist (DITRA)

Familial cold autoinflammatory syndrome (FCAS1/FCAS2)

Familial Mediterranean fever (FMF)

Hyperimmunoglobulinemia D syndrome (HIDS)

IL10RA

IL10RB

IL1RN

IL36RN

Inflammatory bowel disease

ISG15

Japanese autoinflammatory syndrome with lipodystrophy (JASL)

JMP (joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy)

LPIN2

MEFV

Majeed syndrome

Mevalonic aciduria

Muckle-Wells syndrome

MVK

Neonatal onset multisystem inflammatory disease (NOMID)

NLRP12

NLRP3 (CIAS1)

NOD2 (CARD15)

Pediatric granulomatous arthritis

PLCG2

PLC-gamma2 associated antibody deficiency and immune dysregulation (PLAID)

Proteasome-associated autoinflammatory syndrome (PRASS)

PSMB8

PSTPIP1 (CD2BP1)

Psoriasis 2

Pustular psoriasis

Pyogenic sterile arthritis pyoderma gangrenosum acne (PAPA)

RBCK1 (HOIL1)

SH3BP2

TNFRSF1A

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

Very early onset inflammatory bowel disease (VEOIBD)

Primary Immunodeficiency

Pityriasis rubra pilaris

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

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Mutation, Targeted Testing, Varies.

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

 

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 (T493)

Specimen Volume: 2 to 5 Blood spots on collection card

Collection Instructions:

1. An alternative blood collection option for a patient older than1 year of age is finger stick. See Dried Blood Spot Collection Tutorial for how to collect blood spots.

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

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.

 

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. 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. 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

1. 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) is recommended. See 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 autoinflammatory syndromes and related disorders

 

Establishing a diagnosis of autoinflammatory disease, and in some cases guiding management and allowing for surveillance of disease features

 

Identification of pathogenic variants within genes known to be associated with autoinflammatory 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 CARD14, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRP12, NLRP3 (CIAS1), NOD2 (CARD15), PLCG2, PSMB8, PSTPIP1 (CD2BP1), RBCK1 (HOIL1), SH3BP2, and TNFRSF1A 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

Autoinflammatory disorders include several monogenic defects associated with abnormal activation of the innate immune system leading to clinically evident inflammation and high levels of acute-phase reactants. These disorders typically present in childhood, often manifesting with unexplained fevers. While these features can mimic infections or hematological neoplasias, the inflammatory lesions are non-neoplastic and sterile. While periodic fever adenitis pharyngitis aphthous ulcer  syndrome (aphthous stomatitis, pharyngitis, and adenitis), systemic juvenile idiopathic arthritis (sJIA), adult-onset Still disease, and Behcet disease overlap phenotypically with autoinflammatory conditions, a genetic cause of these disorders has not been identified and, therefore, they are not included on this panel. Several of the autoinflammatory conditions represented on this panel are responsive to interleukin-1 (IL-1) blocking therapies; therefore, determining the underlying genetic cause may help guide treatment decisions.

 

Monogenic autoinflammatory conditions include the periodic fever syndromes (ie, familial Mediterranean fever, cryopyrinopathy-associated periodic syndrome, Muckle-Wells syndrome, familial cold autoinflammatory syndrome, neonatal onset multisystem inflammatory disease or chronic infantile neurologic cutaneous and articular syndrome, tumor necrosis factor [TNF] receptor-associated periodic syndrome, hyper IgD syndrome/Mevalonate kinase deficiency), diseases with pyogenic lesions (ie, deficiency of Il-1 receptor antagonist [DIRA]; pyogenic arthritis, pyoderma gangrenosum and acne [PAPA]; Majeed syndrome), diseases with granulomatous lesions (ie, Blau syndrome), diseases with psoriasis (ie, deficiency of interleukin 36-receptor antagonist [DITRA]); diseases with panniculitis-induced lipodystrophy (JMP syndrome, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome [CANDLE], Nakajo-Nishimura syndrome [NNS], proteasome-associated autoinflammatory syndromes [PRAAS]). DITRA and CARD14-mediated psoriasis (CAMPS) both present with pustular skin lesions and early-onset inflammatory bowel disease . See the table for a summary of genes included in this panel, associated diseases, and the mode of inheritance.

 

NOD2-associated autoinflammatory disease (NAID), also known as Yao syndrome, is a newly described clinical entity characterized by recurrent fever, dermatitis, and inflammatory arthritis along with GI symptoms in a majority of the patients. Variants in NOD2 have been associated with NAID; however, the variants that have been implicated to date are common variants that confer risk for development of the disorder and are not diagnostic. These common variants are not included in the report for this panel; however, a list of all common variants identified is available by request.

 

While several of the autoinflammatory conditions, including those without a known genetic basis, are responsive to IL-1 blocking therapies, PRAAS, CANDLE, DITRA, and CAMPS are not responsive to IL-1 blockade. Anakinra, rilonacept, and canakinumab are several examples of medications that target IL-1.

 

The NOD-like receptors (NLR), which include 23 family members in humans, are an integral part of the innate immune system. NLR are involved in the formation of the inflammasome, of which the NLRP3 (NALP3) inflammasome is most relevant to human disease and is responsible for activation of the proinflammatory cytokine IL-1 beta.

 

Table. Genes included in this panel

 

Gene symbol (alias)

Protein

OMIM

Incidence

Inheritance

Phenotype disorder

CARD14

Caspase recruitment domain-containing protein 14 isoform 1

607211

 Rare

AD

Pityriasis rubra pilaris, psoriasis 2 (CAMPS)

IL10RA

Interleukin-10 receptor subunit alpha precursor

146933

 Rare

AR

Very early onset inflammatory bowel disease 28 (VEOIBD)

IL10RB

Interleukin-10 receptor subunit beta precursor

123889

 Rare

AR

Very early onset inflammatory bowel disease 25 (VEOIBD)

IL1RN

Interleukin-1 receptor antagonist protein isoform 2

147679

 Rare

AR

Deficiency of interleukin 1 receptor antagonist (DIRA)

IL36RN

Interleukin-36 receptor antagonist protein

605507

Rare

AR

Pustular psoriasis 14,

deficiency of IL36 receptor antagonist (DITRA)

ISG15

Ubiquitin-like protein ISG15 precursor

147571

Rare

AR

Immunodeficiency 38  

LPIN2

Phosphatidate phosphatase LPIN2

605519

Primarily identified in Arab ethnicities

AR

Majeed syndrome

MEFV

Pyrin isoform 1

608107

Primarily identified in Armenian, Arab, Turkish, Italian, and Jewish ethnicities

AR (most), AD (rarely)

Familial Mediterranean fever (FMF)

MVK

Mevalonate kinase isoform a

251170

Primarily identified in Caucasians of western European ancestry

AR/AD

Hyperimmunoglobulinemia D syndrome (HIDS), Mevalonate kinase-associated periodic fever syndrome, Mevalonic aciduria, Porokeratosis 3, multiple types (AD)

NLRP12 (NALP12)

NACHT, leucine rich repeat (LRR) and PYD domains-containing protein 12 isoform 2

609648

 Rare

AD

Familial cold autoinflammatory syndrome 2 (FCAS2)

NLRP3 (NALP3) (CIAS1)

NACHT, LRR, and PYD domains-containing protein 3 isoform a

606416

Primarily identified in Caucasians of western European ancestry

AD

Familial cold autoinflammatory syndrome 1 (FCAS1), Muckle-Wells syndrome; Neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurological cutaneous and articular syndrome (CINCA)

NOD2 (CARD15)

Nucleotide-binding oligomerization domain-containing protein 2 isoform 1

605956

 Rare

AD

 

Blau syndrome, Early-onset Sarcoidosis, Inflammatory bowel disease 1

 

 

 

Pediatric granulomatous arthritis (PGA)

PLCG2

1-Phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2

600220

Rare

AD

PLC gamma 2-associated antibody deficiency and immune dysregulation (PLAID), autoinflammation and PLC gamma 2-associated antibody deficiency and immune dysregulation (APLAID)

PSMB8

Proteasome subunit beta type-8 isoform E2 precursor

177046

 Rare

AR

CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy); JMP (joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy); PRASS (proteasome-associated auto-inflammatory syndrome); JASL (Japanese autoinflammatory syndrome with lipodystrophy)

PSTPIP1 (CD2BP1)

Proline-serine-threonine phosphatase-interacting protein 1

606347

 Rare

AD

Pyogenic sterile arthritis
pyoderma gangrenosum acne (PAPA)

RBCK1 (HOIL1)

RanBP-type and C3HC4-type zinc finger-containing protein 1 isoform 2

610924

 Rare

AR

Polyglucosan body myopathy 1 with or without immunodeficiency;

chronic autoinflammation, invasive bacterial infections, muscle amylopectinosis

SH3BP2

SH3 domain-binding protein 2 isoform a

602104

 Rare

AD

Cherubism, autoinflammatory bone disease

TNFRSF1A

Tumor necrosis factor receptor superfamily member 1A precursor

191190

Primarily identified in Caucasians of western European ancestry

AD

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

 

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.(1) 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:

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.

 

If testing was performed because of a family history of autoinflammatory disease, it is important 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  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 pathogenic variants 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 including benign, likely benign, and high minor allele frequency (>1%) risk-associated variants detected is available from the lab upon request after results are received.

 

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. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424

2. Ozen S, Bilginer T: A clinical guide to autoinflammatory diseases: FMF and next of kin. Nature Rev. Rheumatol. 2014;10:135-147

3. Canna SW, Goldbach-Mansky R: New monogenic autoinflammatory diseases-a clinical overview. Semin Immunopathol. 2015;37:387-394

4. Henderson C, Goldbach-Mansky R: Monogenic IL-1-mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals. Clin Immunol. 2010;135:210-222

5. Caso F, Galozzi P, Costa L, et al: Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. RMD Open. 2015;1:e000097

6. Stern SM, Ferguson PJ: Autoinflammatory bone diseases. Rheum Dis Clin North Am. 2013;39:735-749

7. Martinon F, Aksentijevich I: New Players driving inflammation in monogenic autoinflammatory diseases. Nat Rev Rheumatol. 2015;11:11-20

8. Jesus AA, Goldbach-Mansky R: IL-1 blockade in autoinflammatory syndromes. Annu Rev Med. 2014;65:223-244

9. 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;38:96-128

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

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.

81443

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
AUTOP Autoinflammatory 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.
BA3878 Gene(s) Evaluated 48018-6
BA3879 Result Summary 50397-9
BA3880 Result Details 82939-0
BA3881 Interpretation 69047-9
BA3882 Additional Information 48767-8
BA3883 Method 85069-3
BA3884 Disclaimer 62364-5
BA3885 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 | Create a 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