DNA icon

Steroid-Resistant Nephrotic Syndrome (SRNS)/ Focal Segmental Glomerulosclerosis (FSGS) via the TRPC6 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11771 TRPC6 81406 81406,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11771TRPC681406 81406,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Wuyan Chen, PhD

Clinical Features and Genetics

Clinical Features

Nephrotic syndrome is a genetically heterogeneous disease defined by proteinuria, hypoalbuminemia, hyperlipidemia, and edema (Benoit et al. 2010; Santín et al. 2011; Saleem 2012). Approximately 20% of cases are steroid-resistant nephrotic syndrome (SRNS), characterized by resistance to steroid treatment and rapid progression to end-stage renal failure. The prevalent histological feature of SRNS is focal segmental glomerulosclerosis (FSGS), which has been seen in approximately 60% of SRNS cases. The clinical course of nephrotic syndrome varies greatly with a wide range of age at onset from birth to adulthood. Dominant TRPC6 pathogenic variants cause FSGS in both children and adults with variable penetrance (Santín et al. 2009).

Genetics

Dominant TRPC6 pathogenic variants have been reported to cause both non-familial and familial FSGS (Santín et al. 2009; Barua et al. 2013). The TRPC6 gene (13 coding exons) encodes the slit diaphragm-associated transient receptor potential channel C6, which is a podocyte-expressed component of the glomerular slit diaphragm required for proper regulation of podocyte structure and function (Reiser et al. 2005; Winn et al. 2005). Documented genetic defects of TRPC6 to date include missense, nonsense mutations and small indels (Human Gene Mutation Database). Exon-level large deletions involving TRPC6 have not been reported.

Clinical Sensitivity - Sequencing with CNV PGxome

TRPC6 pathogenic variants were found in 2-3% of FSGS patients (Santín et al. 2009; Barua et al. 2013).

Testing Strategy

This test provides full coverage of all coding exons of the TRPC6 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with SRNS/FSGS. Testing is also indicated for family members of patients who have known mutations in the TRPC6 gene.

Gene

Official Gene Symbol OMIM ID
TRPC6 603652
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Focal Segmental Glomerulosclerosis 2 603965

Citations

  • Barua M. et al. 2013. Kidney International. 83: 316-22. PubMed ID: 23014460
  • Benoit G. et al. 2010. Pediatric Nephrology (berlin, Germany). 25: 1621-32. PubMed ID: 20333530
  • Human Gene Mutation Database (Bio-base).
  • Reiser J. et al. 2005. Nature Genetics. 37: 739-44. PubMed ID: 15924139
  • Saleem M.A. 2013. Pediatric Nephrology (berlin, Germany). 28: 699-709. PubMed ID: 22782578
  • Santín S. et al. 2009. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 24: 3089-96. PubMed ID: 19458060
  • Santín S. et al. 2011. Clinical Journal of the American Society of Nephrology : Cjasn. 6: 1139-48. PubMed ID: 21415313
  • Winn M.P. et al. 2005. Science (new York, N.y.). 308: 1801-4. PubMed ID: 15879175

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×

ORDER OPTIONS

An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
×
Copy Text to Clipboard
×