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Steroid-Resistant Nephrotic Syndrome via the NUP205 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
11533 NUP205 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11533NUP20581479 81479,81479 $890 Order Options and Pricing

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 backbone).

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

Turnaround Time

18 days on average for standard orders or 13 days 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

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Nephrotic syndrome (NS) is a genetically heterogeneous disease defined by proteinuria, hypoalbuminemia, hyperlipidemia, and edema (Benoit et al. 2010; Santín et al. 2011; Saleem 2013). NS in young adults and children is classified into steroid-sensitive NS (SSNS) versus steroid-resistant NS (SRNS) in terms of its response to a standardized steroid therapy. Approximately 20% of cases are 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. Diffuse mesangial sclerosis (DMS) is the other important histological feature associated with SRNS. The clinical courses of NS vary greatly with a wide range of age at onset from birth to adulthood. Defects in the nuclear pore complex subunit NUP205 cause autosomal recessive early-onset SRNS (Braun et al. 2016).

Genetics

NUP205-associated nephrotic syndrome is inherited in an autosomal recessive manner (Braun et al. 2016). The NUP205 gene (43 coding exons) encodes a nuclear pore complex subunit. The nuclear pore complex plays important roles in nucleocytoplasmic transport, nuclear framework, and gene regulation. Genetic defects documented to date in NUP205 only include one missense variant (Human Gene Mutation Database; Braun et al. 2016). 

Clinical Sensitivity - Sequencing with CNV PGxome

In a study of 160 families with Steroid-Resistant Nephrotic Syndrome by homozygosity mapping and whole-exome sequencing, Braun et al. found a homozygous missense variant in NUP205 in one family with SRNS (Braun et al. 2016). So far, this is the only pathogenic NUP205 variant reported.

Testing Strategy

This test provides full coverage of all coding exons of the NUP205 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 steroid-resistant nephrotic syndrome. Testing is also indicated for family members of patients who have known mutations in the NUP205 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in NUP205.

Gene

Official Gene Symbol OMIM ID
NUP205 614352
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Nephrotic Syndrome, Type 13 AR 616893

Citations

  • Benoit G. et al. 2010. Pediatric Nephrology. 25: 1621-32. PubMed ID: 20333530
  • Braun D.A. et al. 2016. Nature Genetics. 48: 457-65. PubMed ID: 26878725
  • Human Gene Mutation Database (Bio-base).
  • Saleem M.A. 2013. Pediatric Nephrology. 28: 699-709. PubMed ID: 22782578
  • Santín S. et al. 2011. Clinical Journal of the American Society of Nephrology. 6: 1139-48. PubMed ID: 21415313

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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: $
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