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Test Code CDGF Celiac Disease Gluten-Free Cascade, Serum and Whole Blood

Reporting Name

Celiac Disease Gluten-Free Cascade

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Evaluating patients suspected of having celiac disease who are currently (or were recently) on a gluten-free diet

Method Name

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


Ordering Guidance


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 whole blood and serum are required.

 

Specimen Type: Whole 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 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) 21 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

HLA-DQ TYPING

Presence of HLA-DQ2 or HLA-DQ8 alleles associated with celiac disease

Interpretation

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. For these individuals, no further serologic testing is required. 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. For individuals with DQ2 and/or DQ8 alleles, in the context of positive serology and compatible clinical symptoms, small intestinal biopsy is recommended.

 

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/IgG Antibodies:

Individuals positive for tTG antibodies of the IgA and/or IgG isotype may 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 indicated. 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 and/or IgG 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 indicated. 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.

Day(s) Performed

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

Report Available

9 to 11 days

Test Classification

See Individual Test IDs

CPT Code Information

81376 x 2

82784 (if appropriate)

86258 (if appropriate)

86364 (if appropriate)

86231 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CDGF Celiac Disease Gluten-Free Cascade 94493-4

 

Result ID Test Result Name Result LOINC Value
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
CELI2 HLA-DQ Typing Yes, (Order CELI) Yes
CDGF1 Celiac Disease Interpretation No Yes

Reflex Tests

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

Testing Algorithm

If HLA-DQ typing is positive or equivocal for DQ2 or DQ8, then IgA, tissue transglutaminase IgA and IgG, and deamidated gliadin IgA and IgG antibody testing will be performed at an additional charge.

 

The following algorithms are available:

-Celiac Disease Gluten-Free Cascade Test Algorithm.

-Celiac Disease Routine Treatment Monitoring Algorithm