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Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via the UMOD 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
UMOD 81406 81406,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8209UMOD81406 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.


Genetic Counselors


  • Wuyan Chen, PhD

Clinical Features and Genetics

Clinical Features

Medullary cystic kidney disease type 2 (MCKD2) is a tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction (Hart et al. 2002; Wolf et al. 2003). This disease presents with adult onset of impaired renal function, hyperuricemia, gout, and renal salt wasting resulting in end-stage renal failure by the sixth decade.

Familial juvenile hyperuricemic nephropathy 1 (FJHN1) is characterized by elevated serum uric acid concentrations, defective urinary concentrating ability, interstitial nephropathy, and progressive renal failure (Hart et al. 2002).

Both diseases are caused by defects in the UMOD gene.


Both MCKD2 and FJHN1 are autosomal dominant diseases caused by defects in the gene UMOD (Hart et al. 2002; Wolf et al. 2003). Documented genetic defects of UMOD include missense (the vast majority), splicing mutations and small deletion/insertions (Human Gene Mutation Database). Missense mutations apparently cluster in exons 3 and 4 (NM_003361.3), which encode EGF-like domains (Wolf et al. 2003; Bollée et al. 2011). Exon-level large deletions involving UMOD have not been reported yet.

UMOD (uromodulin) is a glycosyl phosphatidylinositol (GPI) anchored glycoprotein and the most abundant protein in normal urine. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids and may provide defense against urinary tract infections caused by uropathogenic bacteria.

Clinical Sensitivity - Sequencing with CNV PGxome

Among 136 probands with MCKD/FJHN phenotype from patients collected in Paris and Brussels, a UMOD mutation was found in 24 (17.8%) (Bollée et al. 2011).

Testing Strategy

This test provides full coverage of all coding exons of the UMOD 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 either MCKD2 or FJHN1. Testing is also indicated for family members of patients who have known mutations in the UMOD gene.


Official Gene Symbol OMIM ID
UMOD 191845
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Bollée G, Dahan K, Flamant M, Morinière V, Pawtowski A, Heidet L, Lacombe D, Devuyst O, Pirson Y, Antignac C, Knebelmann B. 2011. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol 6: 2429–2438. PubMed ID: 21868615
  • Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ. 2002. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J. Med. Genet. 39: 882–892. PubMed ID: 12471200
  • Human Gene Mutation Database (Bio-base).
  • Wolf MTF, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HPH, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F. 2003. Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Kidney Int. 64: 1580–1587. PubMed ID: 14531790


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

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View Ordering Instructions

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2) Select Additional Test Options

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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