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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

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Monogenic kidney disease spans a clinical spectrum of conditions with etiologies that can include structural, metabolic, immune, or endocrine abnormalities. Many heritable kidney diseases exhibit overlapping or complex phenotypes leading to a broad clinical differential. This gene panel assesses over 300 genes associated with a diverse spectrum of monogenic kidney diseases spanning the structural, metabolic, immune, and endocrine phenotypes. Assessing genetic etiologies across this phenotypic spectrum may aid in differentiating the genetic etiology of complex or ambiguous clinical presentations.(1-6)

 

Renal phenotypes assessed on this panel include: 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 (CM-TMA; also known as atypical hemolytic uremic syndrome [aHUS]).

 

Many hereditary kidney diseases exhibit autosomal dominant, autosomal recessive, and/or X-linked inheritance. However, some hereditary kidney diseases exhibit complex or multifactorial inheritance. These complex and environmental etiologies are not assessed on this gene panel.

 

Several risk alleles associated with increased susceptibility to kidney disease are also included on this panel to aid in risk assessment:

-APOL1 Genotype: Two alleles, commonly called G1 and G2, have been associated with increased risk for development or progression of nondiabetic chronic kidney diseases.(7)

-CFH-H3 Risk Haplotype: The variants that comprise this risk haplotype are common in the general population, but in the context of additional pathogenic genetic and environmental factors, the presence of this risk haplotype is associated with an increased risk for development or progression of atypical hemolytic uremic syndrome.(8)

-MCP/CD46 Risk Haplotype: The variants that comprise this risk haplotype are common in the general population, but in the context of additional pathogenic genetic and environmental factors, the presence of this risk haplotype is associated with an increased risk for development or progression of atypical hemolytic uremic syndrome.(8)

-Finally, two variants in C5 (p.Arg885His and p.Arg885Cys) that are associated with poor response to eculizumab can be detected by this panel.(9)

Reference Values

An interpretive report will be provided.

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)