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Test ID IBDGP Inflammatory Bowel Disease Primary Immunodeficiency (PID) Panel, Varies


Advisory Information


This test is not a serological screening test for inflammatory bowel disease (IBD) and does not differentiate between Crohn's disease, ulcerative colitis, or other inflammatory bowel conditions. This test should not be used as an adjunct test to establish a diagnosis of IBD.

 

This panel has limited utility in patients who present with IBD in adulthood and respond well to conventional therapy.

 

Targeted testing for familial variants (also called site-specific or known mutation testing) is available for the genes on this panel. See:

-KVAR1 / Known Variant Analysis-1 Variant, Varies

-KVAR2 / Known Variant Analysis-2 Variants, Varies

-KVAR3 / Known Variant Analysis-3+ Variants, Varies

 

Call 800-533-1710 to confirm the appropriate test for targeted testing.



Necessary Information


1. Primary Immunodeficiencies Patient Information (T791) is required. See Special Instructions.

Note: Testing may proceed without the Patient Information however it aids in providing a more thorough interpretation. Ordering physicians are strongly encouraged to fill out the form.

2. Primary Immunodeficiency (PID) Panel Prior Authorization Ordering Instructions is required, see Special Instructions. Submit the required form with the specimen.

3. Include physician name and phone number with specimen.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor or a recent (ie, <6 weeks from time of sample collection) heterologous blood transfusion 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.

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

Specimen Volume: 2 to 5 blood spots on collection card

Collection Instructions:

1. An alternative blood collection option for a patient <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.

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 Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Peripheral blood mononuclear cells (PBMCs)

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

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 3 weeks is required to culture fibroblasts before genetic testing can occur.

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

 

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.

Specimen Volume: 4-mm punch

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 Stability Information: Refrigerated (preferred)/Ambient

 

Specimen Type: 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


Forms

1. Primary Immunodeficiencies Patient Information (T791) is required, see Special Instructions.

2. 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)

3. If not ordering electronically, complete, print, and send a Gastroenterology and Hepatology Client Test Request (T728) with the specimen.

4. Primary Immunodeficiency (PID) Panel Prior Authorization Ordering Instructions in Special Instructions.

Useful For

Genetic testing for patients with very early onset inflammatory bowel disease (IBD), early onset IBD, or IBD refractory to treatment.

 

Identifying variants in genes known to be associated with monogenic IBD or IBD-like conditions. Identification may allow for development of a specific treatment and surveillance plan for these patients based on the molecular alteration identified, and predictive testing of at-risk family members.

 

Diagnosis of monogenic IBD or IBD-like conditions among patients with early onset or very-early onset IBD, or who are refractory to conventional therapy.

 

Ascertaining carrier status of family members of individuals diagnosed with early onset IBD for genetic counseling purposes. If a family member has already tested positive for a variant in a gene on this panel, order known variant analysis (KVAR). See Advisory Information section (Specimen tab) for more details.

 

This test is not useful for establishing a diagnosis of typical polygenic IBD or for differentiating between Crohn’s disease and ulcerative colitis.

Reflex Tests

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

Testing Algorithm

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.

Method Name

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

Reporting Name

IBD PID Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

Whole blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Inflammatory bowel disease (IBD) is a term used to encompass disorders involving chronic intestinal inflammation. These conditions are typically classified as either Crohn's disease or ulcerative colitis based on clinical features, colonoscopy findings, histologic changes, and the anatomical distribution of disease; however, in some cases, overlapping features are noted. Over the past few decades, the incidence of inflammatory bowel disease has been rapidly increasing in both children and adults. Common symptoms include: diarrhea, abdominal pain, fatigue, and unintentional weight loss. The majority of IBD is thought to be either polygenic or multifactorial. In these susceptible individuals, an environmental component appears to trigger disease manifestation. However, in rare cases, IBD or IBD-like intestinal inflammation can be attributed to disease-causing variants in a single gene (monogenic inheritance) which results in a highly penetrant condition.

 

Monogenic IBD typically presents at a very young age (often <6 years of age at onset of symptoms) compared to polygenic IBD (peak at 20-40 years of age), although the incidence of polygenic IBD in young patients is increasing and conversely some patients with milder forms of monogenic IBD may not present until later. Individuals with polygenic or monogenic IBD may also have other family members affected with IBD (a positive family history). In many cases, patients with a monogenic form of IBD may not respond well to conventional treatment modalities and may have a related primary immunodeficiency. Identification of the genetic cause of disease in these individuals is important as it may change the treatment plan for these individuals. Depending on the genetic cause, targeted therapies or allogeneic hematopoietic stem cell transplantation may be beneficial. Therefore, identification of these conditions is important as it can guide treatment, including medical therapy, surgery, or stem cell transplant, and may reduce the high morbidity and mortality associated with these conditions.

Reference Values

An interpretive report will be provided.

Interpretation

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.

Clinical Reference

1. Uhlig HH, Schwerd T, Koletzko S, et al: The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology. 2014;147:990-1007

2. Uhlig HH, Schwerd T: From Genes to Mechanisms: The expanding spectrum of monogenic disorders associated with inflammatory bowel disease. Inflamm Bowel Dis. 2016;22:202-212

3. Kelsen JR, Baldassano RN, Artis D, et al: Maintaining intestinal health: the genetics and immunology of very early-onset inflammatory bowel disease. Cell Mol Gastroenterol Hepatol. 2015;1:462-476

Day(s) and Time(s) Performed

Monday

Analytic Time

2 weeks

Test Classification

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 U.S. Food and Drug Administration.

CPT Code Information

81443

LOINC Code Information

Test ID Test Order Name Order LOINC Value
IBDGP IBD PID Gene Panel In Process

 

Result ID Test Result Name Result LOINC Value
BA3894 Gene(s) Evaluated 36908-2
BA3895 Result Summary 50397-9
BA3896 Result Details 82939-0
BA3897 Interpretation 69047-9
BA3898 Additional Information 48767-8
BA3899 Method 49549-9
BA3900 Disclaimer 62364-5
BA3901 Reviewed by 18771-6