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Test Code Billings Clinic: 9130 Mayo: CDCOM Celiac Disease Comprehensive Cascade, Serum and Whole Blood

Reporting Name

Celiac Disease Comprehensive Casc

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease)

 

Comprehensive algorithmic evaluation including human leukocyte antigen typing

Method Name

IGA: Nephelometry

CELI2: Polymerase Chain Reaction (PCR)/Sequence-Specific Oligonucleotide Probe (SSO)

CDCM1: Technical Interpretation


Ordering Guidance


This cascade should not be used in patients who have previously been or are currently being treated with a gluten-free diet. For these individuals, CDGF / Celiac Disease Gluten-Free Cascade, Serum and Whole Blood should be ordered.

 

This cascade should not be used in patients for whom human leukocyte antigen (HLA) DQ2/DQ8 typing has already been performed. For individuals who are positive for either DQ2 and/or DQ8, CDSP / Celiac Disease Serology Cascade, Serum should be ordered to assess for the presence of autoantibodies associated with celiac disease. For individuals who are negative for DQ2 and DQ8, no further testing is necessary as a diagnosis of celiac disease is unlikely.

 

Cascade testing is recommended for celiac disease. Cascade testing ensures that testing proceeds in an algorithmic fashion. The following cascades are available; select the appropriate one for your specific patient situation.

-CDCOM / Celiac Disease Comprehensive Cascade, Serum and Whole Blood: Complete testing including HLA DQ

-CDSP / Celiac Disease Serology Cascade, Serum: Complete serology testing excluding HLA DQ

-CDGF / Celiac Disease Gluten-Free Cascade, Serum and Whole Blood: For patients already adhering to a gluten-free diet

 

To order individual tests, see Celiac Disease Diagnostic Testing Algorithm



Specimen Required


Both blood and serum are required.

 

Specimen Type: Blood

Container/Tube: Yellow top (ACD solution A or B)

Specimen Volume: 6 mL

Collection Instructions: Send whole blood in original tube. Do not aliquot.

 

Specimen Type: Serum

Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 2 mL

Collection Instructions: Centrifuge and aliquot serum into a plastic vial.


Specimen Type

Serum
Whole Blood ACD-B

Specimen Minimum Volume

Blood: 3 mL
Serum: 1.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Refrigerated (preferred) 14 days
  Frozen  21 days
Whole Blood ACD-B Refrigerated (preferred)
  Ambient 

Reject Due To

Gross hemolysis Reject
Gross lipemia Reject
Gross icterus OK

Reference Values

IMMUNOGLOBULIN A (IgA)

0-<5 months: 7-37 mg/dL

5-<9 months: 16-50 mg/dL

9-<15 months: 27-66 mg/dL

15-<24 months: 36-79 mg/dL

2-<4 years: 27-246 mg/dL

4-<7 years: 29-256 mg/dL

7-<10 years: 34-274 mg/dL

10-<13 years: 42-295 mg/dL

13-<16 years: 52-319 mg/dL

16-<18 years: 60-337 mg/dL

≥18 years: 61-356 mg/dL

 

HLA-DQ TYPING

Presence of DQ2 or DQ8 alleles associated with celiac disease

Interpretation

Immunoglobulin A:

Total IgA levels below the age-specific reference range suggest either a selective IgA deficiency or a more generalized immunodeficiency. For individuals with a low or high IgA level, additional clinical and laboratory evaluation is recommended. Some individuals may have a partial IgA deficiency in which the IgA levels are detectable but fall below the age-adjusted reference range. For these individuals both IgA and IgG isotypes for tissue transglutaminase (tTG) and deamidated gliadin antibodies are recommended for the evaluation of celiac disease; tTG IgA, tTG IgG, deamidated gliadin IgA, and deamidated gliadin IgG antibody assays are performed in this cascade. For individuals who have selective IgA deficiency with undetectable levels of IgA, only -tTG IgG and -deamidated gliadin IgG antibody assays are performed.

 

HLA-DQ Typing:

Approximately 90% to 95% of patients with celiac disease have the HLA-DQ2 allele; most of the remaining patients with celiac disease have the HLA-DQ8 allele. Individuals who do not carry either of these alleles are unlikely to have celiac disease. However, individuals with these alleles may not, during their lifetime, develop celiac disease. Therefore, the presence of DQ2 or DQ8 does not conclusively establish a diagnosis of celiac disease. Individuals with DQ2 and/or DQ8 alleles, in the context of positive serology and compatible clinical symptoms, should be referred for small intestinal biopsy. HLA typing may be especially helpful for those patients who have begun to follow a gluten-free diet prior to a confirmed diagnosis of celiac disease.

 

tTG IgA/IgG Antibodies:

Individuals positive for tTG antibodies of the IgA isotype likely have celiac disease, and a small intestinal biopsy is recommended. For individuals with selective IgA deficiency, testing for tTG antibodies of the IgG isotype is performed. In these individuals, a positive tTG IgG antibody result suggests a diagnosis of celiac disease. However, just as with the tTG IgA antibody, a biopsy should be performed to confirm the diagnosis. Negative tTG IgA and/or IgG antibody serology does not exclude a diagnosis of celiac disease, as antibody levels decrease over time in patients who have been following a gluten-free diet.

 

Deamidated Gliadin IgA/IgG Antibodies:

Positivity for deamidated gliadin antibodies of the IgA isotype is suggestive of celiac disease, and a small intestinal biopsy is recommended. For individuals with selective IgA deficiency, testing for deamidated gliadin antibodies of the IgG isotype is performed. In these individuals, a positive deamidated gliadin IgG antibody result suggests a diagnosis of celiac disease. However, just as with the deamidated gliadin IgA antibody, a biopsy should be performed to confirm the diagnosis. Negative deamidated gliadin IgA and/or IgG antibody serology does not exclude a diagnosis of celiac disease, as antibody levels decrease over time in patients who have been following a gluten-free diet.

 

Endomysial Antibody, IgA:

Positivity for endomysial antibodies (EMA) of the IgA isotype is suggestive of celiac disease, and small intestinal biopsy is recommended. For individuals with selective IgA deficiency, evaluation of EMA antibodies is not indicated. Negative EMA antibody serology does not exclude a diagnosis of celiac disease, as antibody levels decrease over time in patients who have been following a gluten-free diet.

Day(s) Performed

Profile tests: Monday through Friday; Reflex tests: Monday through Saturday

Report Available

7 to 14 days

Test Classification

See Individual Test IDs

CPT Code Information

81376 x 2

82784

86258 (if appropriate)

86364 (if appropriate)

86231 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CDCOM Celiac Disease Comprehensive Casc 94493-4

 

Result ID Test Result Name Result LOINC Value
IGA Immunoglobulin A (IgA), S 2458-8
DQA DQ alpha 1 94495-9
28991 Celiac Disease Interpretation 69048-7
DQB DQ beta 1 53938-7
CELIG Celiac gene pairs present? 48767-8

Forms

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

Profile Information

Test ID Reporting Name Available Separately Always Performed
IGA Immunoglobulin A (IgA), S Yes Yes
CELI2 HLA-DQ Typing Yes, (Order CELI) Yes
CDCM1 Celiac Disease Interpretation No Yes

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
EMA Endomysial Abs, S (IgA) Yes No
DAGL Gliadin(Deamidated) Ab, IgA, S Yes No
TTGG Tissue Transglutaminase Ab, IgG, S Yes No
DGGL Gliadin(Deamidated) Ab, IgG, S Yes No
TTGA Tissue Transglutaminase Ab, IgA, S Yes No

Testing Algorithm

If the IgA result is within the age-specified normal range, then tissue transglutaminase (tTG) IgA antibody will be performed at an additional charge.

 

If tTG IgA antibody result is equivocal, then endomysial IgA antibodies and deamidated gliadin IgA antibody testing will be performed at an additional charge.

 

If IgA is greater than or equal to 1.0 mg/dL but lower than age-specified normal, then tTG IgA, tTG IgG, deamidated gliadin IgA, and deamidated gliadin IgG antibody testing will be performed at an additional charge.

 

If IgA is below the limit of detection (<1.0 mg/dL), then tTG IgG and deamidated gliadin IgG antibody testing will be performed at an additional charge.

 

For more information see Celiac Disease Comprehensive Cascade Test Algorithm