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Johanson-Blizzard Syndrome via the UBR1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
UBR1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3033UBR181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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


  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

Johanson-Blizzard syndrome (JBS) is a rare congenital multisystem malformation syndrome characterized by nasal wing hypoplasia and exocrine pancreatic insufficiency. Additional common clinical features of JBS include hypothyroidism, sensorineural hearing loss, short stature, scalp defects, dental abnormalities, genitourinary malformations, and intellectual disability. The prevalence of JBS is estimated to be about 1 in 250,000 live births in Europe. More than 60 patients have been reported to date (Sukalo et al. 2014; Hwang et al. 2011; Zenker et al. 2005).


Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder due to loss of function pathogenic variants in the UBR1 gene. UBR1 encodes one of the E3 ubiquitin ligases of the N-end rule pathway. Documented UBR1 mutation types include missense, nonsense, splicing variants, and small deletions/insertions. Missense variants and in-frame deletions are reported to be associated with milder clinical manifestations. No gross deletions/duplications affecting the UBR1 gene have been reported so far (Sukalo et al. 2014; Hwang et al. 2011; Zenker et al. 2005).

Clinical Sensitivity - Sequencing with CNV PG-Select

UBR1 pathogenic variants are the only known cause of Johanson-Blizzard syndrome (JBS). The reported mutation detection rate is ~97% in patients with a clinically well-defined JBS phenotype. No gross deletion and duplication variants affecting the UBR1 gene have been reported so far (Sukalo et al. 2014).

Testing Strategy

This test provides full coverage of all coding exons of the UBR1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with clinical symptoms consistent with nasal wing hypoplasia and exocrine pancreatic insufficiency. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in UBR1.


Official Gene Symbol OMIM ID
UBR1 605981
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Johanson-Blizzard Syndrome AR 243800

Related Test

Congenital Hypothyroidism and Thyroid Hormone Resistance Panel


  • Hwang C-S, Sukalo M, Batygin O, Addor M-C, Brunner H, Aytes AP, Mayerle J, Song HK, Varshavsky A, Zenker M. 2011. Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. PLoS ONE 6: e24925. PubMed ID: 21931868
  • Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor M-C, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Ogur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. 2014. Mutations in the human UBR1 gene and the associated phenotypic spectrum. Hum. Mutat. 35: 521–531. PubMed ID: 24599544
  • Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. 2005. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat. Genet. 37: 1345–1350. PubMed ID: 16311597


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

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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