Nephrotic Syndrome or Palmoplantar Keratoderma and Woolly Hair via the KANK2 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
11413 KANK2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11413KANK281479 81479 $890 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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

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

For Sanger Sequencing click here.

Targeted Testing

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

Turnaround Time

18 days on average


Genetic Counselors


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.

The other KANK2-associated disorder is autosomal-recessive palmoplantar keratoderma and woolly hair, without cardiomyopathy (dyspnea, syncope or sudden death) (Ramot et al. 2014). Clinical features include leukonychia of fingernails, striate keratoderma of palmar skin, keratoderma of plantar skin, sparse and woolly scalp hair, and deep sulcus and bulbous appearance of toes.


KANK2-associated nephrotic syndrome or keratoderma and woolly hair is inherited in an autosomal recessive manner (Gee et al. 2015; Ramot et al. 2014). The KANK2 gene (11 coding exons) encodes kidney ankyrin repeat-containing protein 2. The KANK gene family plays important roles in podocyte function likely through the RHO GTPase signaling pathway. Genetic defects documented to date in KANK2 include three missense pathogenic variants (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

In a targeted gene sequencing study of 576 individuals with steroid sensitive NS (SSNS) and 542 individuals with SRNS, two homozygous missense pathogenic variants in KANK2 were found (Gee et al. 2015).

To date, only one missense pathogenic variant in KANK2 has been reported in two consanguineous families with palmoplantar keratoderma and woolly hair (Ramot et al. 2014).

Testing Strategy

This test provides full coverage of all coding exons of the KANK2 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this test are patients with nephrotic syndrome or keratoderma and woolly hair. Testing is also indicated for family members of patients who have known pathogenic variants in the KANK2 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KANK2.


Official Gene Symbol OMIM ID
KANK2 614610
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Palmoplantar Keratoderma and Woolly Hair AR 616099


  • Benoit G. et al. 2010. Pediatric Nephrology. 25: 1621-32. PubMed ID: 20333530
  • Gee H.Y. et al. 2015. The Journal of Clinical Investigation. 125: 2375-84. PubMed ID: 25961457
  • Human Gene Mutation Database (Bio-base).
  • Ramot Y. et al. 2014. Journal of Medical Genetics. 51: 388-94. PubMed ID: 24671081
  • 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 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.

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

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View Ordering Instructions

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.

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