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Test ID RFSGS Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome 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 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


Specimen Type: Whole blood

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)

Useful For

Providing a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS)

 

Establishing a diagnosis of hereditary SRNS

 

Guiding treatment decisions in individuals with nephrotic syndrome

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in 56 genes associated with focal segmental glomerulosclerosis and nephrotic syndrome: ACTN4, ALG1, ANLN, APOL1 [Chr22(GRCh37):g.36661895-36661916 and g.36662023-36662062 only], ARHGAP24, ARHGDIA, CD2AP, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FAN1, FAT1, FN1, INF2, ITGA3, ITGB4, KANK2, LAMA5, LAMB2, LMX1B, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OCRL, PAX2, PDSS2, PLCE1, PLCG2, PMM2, PODXL, PTPRO, SCARB2, SGPL1, SMARCAL1, TBC1D8B, TRPC6, TTC21B, WDR73, WT1, ZMPSTE24. See Targeted Genes and Methodology Details for Focal Segmental Glomerulosclerosis and Nephrotic Syndrome Gene Panel in Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for focal segmental glomerulosclerosis or nephrotic syndrome.

Method Name

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

Reporting Name

FSGS/Nephrotic 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.

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

81408 x 2

81405 x 2

81406 x 4

81407 x 4

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
RFSGS FSGS/Nephrotic Syndrome Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
618115 Test Description 62364-5
618116 Specimen 31208-2
618117 Source 31208-2
618118 Result Summary 50397-9
618119 Result 82939-0
618120 Interpretation 69047-9
618121 Additional Results In Process
618122 Resources 99622-3
618123 Additional Information 48767-8
618124 Method 85069-3
618125 Genes Analyzed 48018-6
618126 Disclaimer 62364-5
618127 Released By 18771-6

NY State Approved

Yes