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Autosomal Dominant Polycystic Kidney Disease (ADPKD) via the GANAB 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
10459 GANAB 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10459GANAB81479 81479,81479 $890 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 backbone).

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Wuyan Chen, PhD

Clinical Features and Genetics

Clinical Features

Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited kidney disease with multisystem involvement. ADPKD is characterized by bilateral renal cysts accompanied by cysts in other organs including the liver, seminal vesicles, pancreas, and arachnoid membrane (Harris et al. 2011. PubMed ID: 20301424; Cornec-Le Gall et al. 2019. PubMed ID: 30819518). Renal symptoms include hypertension, renal pain, and renal insufficiency. Nearly half of ADPKD patients have end-stage renal disease (ESRD) by age 60 years. The progressive growth of liver cysts is the most common extrarenal manifestation of ADPKD. The most important non-cystic manifestations of ADPKD are vascular and cardiac abnormalities including intracranial aneurysms, mitral valve prolapse, dilatation of the aortic root, dissection of the thoracic aorta, and abdominal wall hernias. The clinical spectrum of ADPKD is wide and substantial variability of disease severity can occur even within the same family. The prevalence of ADPKD is estimated to be between one in 1,000 and one in 2,500 individuals (Cornec-Le Gall et al. 2019. PubMed ID: 30819518).

GANAB-related ADPKD represents an atypical presentation of ADPKD (Cornec-Le Gall et al. 2019. PubMed ID: 30819518). These patients typically have bilateral renal cysts, but kidney size can be normal and kidney function can be preserved. Some patients have predominant liver cysts with few bilateral renal cysts. Onset is usually in mid to late-adulthood. Genetic testing can benefit differential diagnosis of PKD-related phenotypes.

Genetics

PKD1 and PKD2 are the two major causative genes for classical ADPKD (Rossetti et al. 2007. PubMed ID: 17582161; Audrézet et al. 2012. PubMed ID: 22508176). Representing atypical presentations of ADPKD, defects in GANAB and DNAJB11 account for only a small fraction of ADPKD cases (Porath et al. 2016. PubMed ID: 27259053; Cornec-Le Gall et al. 2018. PubMed ID: 29706351).

Loss-of-function is the underlying mechanism of the causative genes for ADPKD. The GANAB gene (25 coding exons) encodes glucosidase II subunit alpha, an enzyme of the endoplasmic reticulum functioning in N-linked glycosylation. Defects in GANAB result in disruption of the folding, maturation and trafficking of polycystin-1 (the PKD1-encoded protein). Documented pathogenic variants in GANAB include truncating changes (nonsense, canonical splicing variants and frame-shifting small deletion/insertions) and missense substitutions (Human Gene Mutation Database). No large deletions or duplications have been reported. De novo variants have been reported, but are expected to be uncommon. GANAB is relatively intolerant to loss of function variants (Genome Aggregation Database).

GANAB has been cited as a conditional gene for growth of human tissue culture cells (Online Gene Essentiality, ogee.medgenius.info). Ganab haploinsufficiency has been reported to not cause polycystic kidney disease or polycystic liver disease in mice. This is the first animal model study of the GANAB gene; further studies are required (Geng et al. 2020. PubMed ID: 32550232). 

Clinical Sensitivity - Sequencing with CNV PGxome

Defects in GANAB account for ~0.3% of total autosomal dominant polycystic kidney disease (ADPKD) (~3% of genetically ADPKD-affected families unexplained by PKD1 and PKD2 pathogenic variants) (Porath et al. 2016. PubMed ID: 27259053).

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 GANAB 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 autosomal dominant polycystic kidney disease (ADPKD). Testing is also indicated for family members of patients who have a known pathogenic variant in the GANAB gene.

Gene

Official Gene Symbol OMIM ID
GANAB 104160
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Polycyctic Kidney Disease 3 AD 600666

Related Tests

Name
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Panel
Polycystic Liver Disease (PLD) Panel

Citations

  • Audr├ęzet et al. 2012. PubMed ID: 22508176
  • Cornec-Le et al. 2018. PubMed ID: 29706351
  • Cornec-Le et al. 2019. PubMed ID: 30819518
  • Geng et al. 2020. PubMed ID: 32550232
  • Genome Aggregation Database.
  • Harris et al. 1993. PubMed ID: 20301424
  • Human Gene Mutation Database (Biobase).
  • Online Gene Essentiality (OGEE).
  • Porath et al. 2016. PubMed ID: 27259053
  • Rossetti et al. 2007. PubMed ID: 17582161

Ordering/Specimens

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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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.

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