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Steroid-Resistant Nephrotic Syndrome and XX Female Gonadal Dysgenesis via the NUP107 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
11531 NUP107 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11531NUP10781479 81479,81479 $990 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 platform).

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

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.


Genetic Counselors


  • 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 NUP107 cause autosomal recessive early-childhood-onset SRNS (Miyake et al. 2015).

A homozygous missense NUP107 variant has also been reported to cause XX female gonadal dysgenesis (Weinberg-Shukron et al. 2015). The disease is characterized by underdeveloped and dysfunctional ovaries, lack of spontaneous pubertal development, uterine hypoplasia, primary amenorrhea, and hypergonadotropic hypogonadism.


NUP107-associated nephrotic syndrome is inherited in an autosomal recessive manner (Miyake et al. 2015). The NUP107 gene (28 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 NUP107 include missense, nonsense, splicing variants and small indels (Human Gene Mutation Database). No large deletions or duplications have been reported. Of note, a missense variant in a homozygous state in NUP107 has been reported to cause XX female gonadal dysgenesis (Weinberg-Shukron et al. 2015).

Clinical Sensitivity - Sequencing with CNV PGxome

Biallelic NUP107 pathogenic variants were found in five of 18 unrelated families with early-onset SRNS without any known genetic causes in 27 known Steroid-Resistant Nephrotic Syndrome causative genes (Miyake et al. 2015).

To date, only one NUP107 missense pathogenic variant has been reported to cause XX female gonadal dysgenesis (Weinberg-Shukron et al. 2015).

Testing Strategy

This test provides full coverage of all coding exons of the NUP107 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 or XX female gonadal dysgenesis. Testing is also indicated for family members of patients who have known mutations in the NUP107 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in NUP107.


Official Gene Symbol OMIM ID
NUP107 607617
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Nephrotic Syndrome, Type 11 AR 616730


  • Benoit G. et al. 2010. Pediatric Nephrology. 25: 1621-32. PubMed ID: 20333530
  • Human Gene Mutation Database (Bio-base).
  • Miyake N et al. 2015. American Journal of Human Genetics. 97: 555-66. PubMed ID: 26411495
  • Saleem MA. 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
  • Weinberg-Shukron A. et al. 2015. The Journal of Clinical Investigation. 125: 4295-304. PubMed ID: 26485283


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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View Ordering Instructions

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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.
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