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Test Code RBART Bartter Syndrome Gene Panel, Varies


Ordering Guidance


The genes associated with Gitelman syndrome (SLC12A3) and autosomal dominant familial hypocalciuric hypercalcemia (FHH) (CASR) are not included on this panel. If testing for these disorders and Bartter syndrome on a single panel is desired, order RSCGP / Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies. It is inappropriate to order both this test and RSCGP on the same patient because the genes on this panel are included on the RSCGP panel.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information, see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. 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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Hereditary Renal Genetic Testing Patient Information (T918)

3. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of Bartter syndrome

 

Establishing a diagnosis of Bartter syndrome

Method Name

Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)

Reporting Name

Bartter Syndrome Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(2) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Fulchiero R, Seo-Mayer P. Bartter Syndrome and Gitelman Syndrome. Pediatr Clin North Am. 2019 Feb;66(1):121-134.

2. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424.

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81404

81406

81407

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
RBART Bartter Syndrome Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
618101 Test Description 62364-5
618102 Specimen 31208-2
618103 Source 31208-2
618104 Result Summary 50397-9
618105 Result 82939-0
618106 Interpretation 69047-9
618107 Additional Results 82939-0
618108 Resources 99622-3
618109 Additional Information 48767-8
618110 Method 85069-3
618111 Genes Analyzed 48018-6
618112 Disclaimer 62364-5
618113 Released By 18771-6