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Test ID RSCGP Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies


Ordering Guidance


A next-generation sequencing (NGS) panel of the 6 genes associated with Bartter syndrome, a rare renal salt-wasting disorder, is available. See RBART / Bartter Syndrome Gene Panel, Varies. It is inappropriate to order both RBART and this test on the same patient because the genes on the RBART panel are included on this panel.

 

Testing for CASR is available individually. See CASRG / CASR Full Gene Sequencing with Deletion/Duplication, Varies.

 

With a few exceptions, this panel is focused on conditions where the primary phenotype is impaired osmoregulation that may result in secondary extrarenal symptoms. If interested in testing for syndromic disorders that are associated with kidney disease but feature broader clinical phenotypes and multisystem involvement, see NEPHP / Comprehensive Nephrology Gene Panel, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations/variants testing) is available for the genes on this panel. See FMTT / Familial Mutation, 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 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)

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance

 

Establishing a diagnosis for a variety of hereditary conditions associated with renal salt wasting or abnormal salt retention; impaired acid-base, water, and calcium homeostasis; or kidney crystallization

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in 72 genes associated with nephrocalcinosis, nephrolithiasis, and renal electrolyte imbalance: ABCC6, ADCY10, AGXT, ALPL, AP2S1, APRT, AQP2, ATP6V0A4, ATP6V1B1, ATP7B, AVP, AVPR2, BSND, CA2, CASR, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, CUL3, CYP11B1, CYP11B2, CYP24A1, CYP27B1, CYP2R1, DMP1, EGF, ENPP1, FAM20A, FGF23, FOXI1, FXYD2, GALNT3, GATA3, GNA11, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, KCNJ5, KL, KLHL3, MAGED2, MOCOS, NR3C2, OCRL, PHEX, PRPS1, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A3, SLC22A12, SLC26A1, SLC2A9, SLC3A1, SLC34A1, SLC34A3, SLC4A1, SLC4A4, SLC7A9, SLC9A3R1, TRPM6, UMOD, VDR, WNK1, WNK4, and XDH. See Targeted Genes and Methodology Details for Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel and Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary forms of nephrocalcinosis, nephrolithiasis, and renal electrolyte imbalance.

 

Disease States

  • Cystinuria
  • Hyperoxaluria
  • Lesch-Nyhan syndrome
  • Xanthinuria

Method Name

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

Reporting Name

Renal Stone/Electrolyte 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.

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. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81404 x 4

81405 x 2

81406 x 8

81407 x 2

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
RSCGP Renal Stone/Electrolyte Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
618129 Test Description 62364-5
618130 Specimen 31208-2
618131 Source 31208-2
618132 Result Summary 50397-9
618133 Result 82939-0
618134 Interpretation 69047-9
618135 Additional Results In Process
618136 Resources 99622-3
618137 Additional Information 48767-8
618138 Method 85069-3
618139 Genes Analyzed 48018-6
618140 Disclaimer 62364-5
618141 Released By 18771-6

NY State Approved

Yes