Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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.
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.
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.
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
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.
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability. |
Specimen Type | Temperature | Time | Special Container |
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Varies | Varies |