Plasma ADA2 activity - Clinical Genetic Test - GTR

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Plasma ADA2 activity

Clinical Genetic Test

offered by

Purine Metabolic and Immunodeficiency Lab

GTR Test Accession: GTR000596793.2

IMMUNOLOGYINHERITED DISEASECARDIOVASCULAR ... View more

Last updated in GTR: 2024-02-28

Last annual review date for the lab: 2024-02-28

At a Glance

Test purpose:

Diagnosis

Conditions (5):

Pediatric arterial ischemic stroke; Aplastic anemia; Bone marrow failure syndrome; ...

Proteins (1):

ADA2

Methods (1):

Biochemical Genetics - Enzyme assay: Enzyme activity

Target population:

Patients with phenotypes associated with DADA2 (Deficiency of Adenosine deaminase …

Clinical validity:

Not provided

Clinical utility:

Establish or confirm diagnosis

Ordering Information

Offered by:

Purine Metabolic and Immunodeficiency Lab

Test short name:

ADA2 activity

Specimen Source:

whole blood (EDTA or heparin) or frozen washed, packed erythrocy
Peripheral (whole) blood
Plasma
View specimen requirements

Who can order:

Health Care Provider

Test Order Code:

Not applicable

LOINC codes:

Not applicable

**LOINC codes notice

Lab contact:

Pawan Bali, PhD, Staff
Bali@duke.edu
919-684-2622
Michael Hershfield, MD, CLIA License Holder
michael.hershfield@duke.edu
919-684-4184
Teresa Tarrant, MD, ABAI, ABIM, FACRM, Medical Director
teresa.tarrant@duke.edu
919-684-2622

Contact Policy:

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

How to Order:

Contact Lab Directors or Dr. Bali by phone or email prior to sending a sample for instructions and sample preparation

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously
Comment: no CPT code
OrderCode: N/A

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Decline to answer

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Test strategy

Conditions

Total conditions: 5

Condition/Phenotype	Identifier

Test Targets

Proteins

Total proteins: 1

Protein	Associated Condition

Methodology

Total methods: 1

Method Category

Test method

Instrument

Enzyme assay

Enzyme activity

HPLC, spectrophotometry

Clinical Information

Test purpose:

Diagnosis

Clinical utility:

Establish or confirm diagnosis

View citations (2)

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911-20. doi:10.1056/NEJMoa1307361. Epub 2014 Feb 19. PMID: 24552284.
Pinto B, Deo P, Sharma S, Syal A, Sharma A. Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment. Clin Rheumatol. 2021;40(10):3883-3896. doi:10.1007/s10067-021-05711-w. Epub 2021 Mar 31. PMID: 33791889.

Target population:

Patients with phenotypes associated with DADA2 (Deficiency of Adenosine deaminase 2)

View citations (2)

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911-20. doi:10.1056/NEJMoa1307361. Epub 2014 Feb 19. PMID: 24552284.
Lee PY. Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2. Front Pediatr. 2018;6:282. doi:10.3389/fped.2018.00282. Epub 2018 Oct 18. PMID: 30406060.

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
expression of cDNA in E. coli (research basis) not performed by this laboratory

Will the lab re-contact the ordering physician if variant interpretation changes?
Yes. Dr. Hershfield or Dr Tarrant are available to answer questions from physicians and genetic counselors involved in the care and counseling of the patient and family

Recommended fields not provided:

Clinical validity, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report

Technical Information

Test Procedure:

Spectrophotometric coupled enzyme assay HPLC

View citations (3)

Automated enzymatic measurement of adenosine deaminase isoenzyme activities in serum. Muraoka T, et al. Anal Biochem. 1990;187(2):268-72. doi:10.1016/0003-2697(90)90455-i. PMID: 2382828.
Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ, Ganson NJ, Kfir-Erenfeld S, Weintraub M, Elpeleg O, Berkun Y, Stepensky P. Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. J Pediatr. 2016;177:316-320. doi:10.1016/j.jpeds.2016.06.058. Epub 2016 Aug 08. PMID: 27514238.
Schnappauf O, Sampaio Moura N, Aksentijevich I, Stoffels M, Ombrello AK, Hoffmann P, Barron K, Remmers EF, Hershfield M, Kelly SJ, , Cuthbertson D, Carette S, Chung SA, Forbess L, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland L, Pagnoux C, Seo P, Springer JM, Sreih AG, Warrington KJ, Ytterberg SR, Kastner DL, Grayson PC, Merkel PA, . Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2. Arthritis Rheumatol. 2021;73(3):512-519. doi:10.1002/art.41549. Epub 2021 Feb 03. PMID: 33021335.

Test Confirmation:

ADA2 gene sequence analysis (not offered by this laboratory, but generally available by genetic testing laboratories)

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

The following aspects of validation were performed using an appropriate number of replicates (3-5): accuracy, precision, linearity, range, stability, sensitivity, interference, ruggedness.

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Intra-Laboratory

Description of internal test validation method: Help
Two independent methods (HPLC and spectrophotometric) are available in the laboratory and both are used to confirm a deficiency of ADA2 and values in the carrier range

VUS:

Laboratory's policy on reporting novel variations
reporting to person ordering the test by email or fax

Recommended fields not provided:

Assay limitations, Citations to support internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Not provided

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Consumer resources:

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.