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Renal Cysts and Diabetes Syndrome via the HNF1B 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
HNF1B 81405 81405,81404 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15247HNF1B81405 81405,81404 $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


  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Renal cysts and diabetes syndrome (RCAD; OMIM# 137920), also referred to as maturity-onset diabetes of the young type 5 (MODY5), is characterized by nondiabetic renal disease and diabetes (Horikawa et al. 1997; McDonald and Ellard 2013). Renal cysts are the most common abnormality. HNF1B defects explain approximately 1% of all MODY cases. In addition, HNF1B defects can cause phenotypes in the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). PAX2 and HNF1B are the two major known CAKUT-causing genes to date (Vivante et al. 2014). Other clinical features caused by HNF1B defects include genital tract abnormalities, abnormal liver function tests, hyperuricemia and hypomagnesemia.


HNF1B-related diseases are inherited in an autosomal dominant manner (Horikawa et al. 1997; McDonald et al. 2013; Vivante et al. 2014). HNF1B has 9 coding exons that encode hepatocyte nuclear factor-1-beta (HNF1B), also known as transcription factor-2 (TCF2), which is a member of the homeodomain-containing superfamily of transcription factors and is an essential factor for embryogenesis of the kidney, pancreas, and liver. Genetic defects of HNF1B throughout the whole coding region include missense, nonsense, splicing mutations, and small deletion/insertions. In addition, large deletions encompassing multiple exons or the whole HNF1B gene have been commonly reported (Human Gene Mutation Database; Bellanné-Chantelot et al. 2005). De novo HNF1B mutations are common, accounting for up to 50% of cases.

Clinical Sensitivity - Sequencing with CNV PG-Select

HNF1B defects explain approximately 1% of all MODY cases (McDonald et al. 2013). Considering that large deletions are common, the HNF1B mutation detection rate via Sanger sequencing is lower than 1% in MODY. HNF1B mutations were found via Sanger sequencing in up to 7% of patients/fetuses with renal hypodysplasia in three large cohort studies (Weber et al. 2006; Thomas et al. 2011; Madariaga et al. 2013).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the HNF1B 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.

Indications for Test

Candidates for this test are patients with renal cysts and diabetes syndrome or the CAKUT spectrum disorder. Testing is also indicated for family members of patients who have known HNF1B mutations.


Official Gene Symbol OMIM ID
HNF1B 189907
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Maturity-Onset Diabetes Of The Young, Type 5 AD 137920


  • Bellanné-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier J-F, Jadoul M, Laloi-Michelin M, Jacquesson L, et al. 2005. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 54: 3126-3132. PMID:  PubMed ID: 16249435
  • Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, et al. 1997. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat. Genet. 17: 384-385. PubMed ID: 9398836
  • Human Gene Mutation Database (Bio-base).
  • Madariaga L, Morinière V, Jeanpierre C, Bouvier R, Loget P, Martinovic J, Dechelotte P, Leporrier N, Thauvin-Robinet C, Jensen UB, Gaillard D, Mathieu M, et al. 2013. Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clin J Am Soc Nephrol 8: 1179-1187. PubMed ID: 23539225
  • McDonald TJ, Ellard S. 2013. Maturity onset diabetes of the young: identification and diagnosis. Ann. Clin. Biochem. 50: 403-415. PubMed ID: 23878349
  • Thomas R, Sanna-Cherchi S, Warady BA, Furth SL, Kaskel FJ, Gharavi AG. 2011. HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. Pediatr. Nephrol. 26: 897-903. PMID:  PubMed ID: 21380624
  • Vivante A, Kohl S, Hwang D-Y, Dworschak GC, Hildebrandt F. 2014. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr. Nephrol. PubMed ID: 24398540
  • Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, et al. 2006. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J. Am. Soc. Nephrol. 17: 2864-2870.  PubMed ID: 16971658


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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