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Test Code NEPHP Comprehensive Nephrology Gene Panel, Varies


Ordering Guidance


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 hereditary kidney disease

 

Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis, nephritic/nephrotic syndrome, Alport syndrome, cystic kidney diseases (including polycystic kidney disease), nephronophthisis, tubulointerstitial disease, congenital anomalies of kidney and urinary tract, nephrocalcinosis, nephrolithiasis (kidney stones), renal electrolyte imbalances (including Bartter syndrome), C3 glomerulopathy, and complement-mediated thrombotic microangiopathy (also known as atypical hemolytic uremic syndrome)

Method Name

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

Reporting Name

Comprehensive Nephrology 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.(10) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Lemaire M, Noone D, Lapeyraque AL, Licht C, Fremeaux-Bacchi V. Inherited kidney complement diseases. Clin J Am Soc Nephrol. 2021;16(6):942-956. doi:10.2215/CJN.11830720

2. Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y. Insights into autosomal dominant polycystic kidney disease from genetic studies. Clin J Am Soc Nephrol. 2021;16(5):790-799. doi:10.2215/CJN.02320220

3. Quinlan C, Rheault MN. Genetic basis of type IV collagen disorders of the kidney. Clin J Am Soc Nephrol. 2021;16(7) 1101-1109. doi:10.2215/CJN.19171220

4. Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D Inherited tubulopathies of the kidney: Insights from genetics. Clin J Am Soc Nephrol. 2021;16(4):620-630. doi:10.2215/CJN.14481119

5. Westland R, Renkema KY, Knoers NVAM. Clinical integration of genome diagnostics for congenital anomalies of the kidney and urinary tract. Clin J Am Soc Nephrol. 2020;16(1):128-137. doi:10.2215/CJN.14661119

6. Li AS, Ingham JF, Lennon R. Genetic disorders of the glomerular filtration barrier. Clin J Am Soc Nephrol. 2020;15(12):1818-1828. doi:10.2215/CJN.11440919

7. Parsa A, Kao WH, Xie D, et al. APOL1 risk variants, race, and progression of chronic kidney disease. N Engl J Med. 2013;369(23):2183-2196. doi:10.1056/NEJMoa1310345

8. Bernabeu-Herrero ME, Jimenez-Alcazar M, Anter J, et al. Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome. Mol Immunol. 2015;67(2 Pt B):276-286. doi:10.1016/j.molimm.2015.06.021

9. Nishimura J, Yamamoto M, Hayashi S, et al. Genetic variants in C5 and poor response to eculizumab. N Engl J Med. 2014;370(7):632-639. doi:10.1056/NEJMoa1311084

10. 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;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

81401 x 2

81404 x 12

81405 x 8

81406 x 22

81407 x 13

81408 x 5

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NEPHP Comprehensive Nephrology Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
618087 Test Description 62364-5
618088 Specimen 31208-2
618089 Source 31208-2
618090 Result Summary 50397-9
618091 Result 82939-0
618092 Interpretation 69047-9
618093 Additional Results 82939-0
618094 Resources 99622-3
618095 Additional Information 48767-8
618096 Method 85069-3
618097 Genes Analyzed 48018-6
618098 Disclaimer 62364-5
618099 Released By 18771-6