Renal Hypodysplasia/Aplasia Type 3 via the GREB1L Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 10465 | GREB1L | 81479 | 81479,81479 | $990 | 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 platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
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.
Clinical Features and Genetics
Clinical Features
Renal hypodysplasia/aplasia type 3 (RHDA3) is an autosomal dominant disorder characterized by unilateral or bilateral renal agenesis, renal aplasia, and/or multicystic kidneys due to abnormal kidney development (Sanna-Cherchi et al. 2017. PubMed ID: 29100090; De Tomasi et al. 2017. PubMed ID: 29100091; Brophy et al. 2017. PubMed ID: 28739660). Phenotypic expression is highly variable, even within families, and incomplete penetrance is evident. Lethal in utero or in the perinatal period, bilateral renal agenesis falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). Living carriers present with variable urogenital abnormalities including unilateral kidney agenesis, vesicoureteral reflux, horseshoe kidney, ovarian agenesis and unicornuate uterus.
Genetics
Renal hypodysplasia/aplasia type 3 (RHDA3) is an autosomal dominant disorder caused by defects in the GREB1L gene (Sanna-Cherchi et al. 2017. PubMed ID: 29100090; De Tomasi et al. 2017. PubMed ID: 29100091; Brophy et al. 2017. PubMed ID: 28739660). Incomplete penetrance is evident.
The protein encoded by GREB1L (growth regulation by estrogen in breast cancer 1-like, 31 coding exons) plays a major role in early metanephros and genital development. Documented pathogenic variants in GREB1L include truncating changes (nonsense, canonical splice variants and frame-shifting small deletion/insertions) and missense substitutions (Sanna-Cherchi et al. 2017. PubMed ID: 29100090; De Tomasi et al. 2017. PubMed ID: 29100091; Brophy et al. 2017. PubMed ID: 28739660). De novo pathogenic variants in GREB1L have been reported. No large deletions or duplications at GREB1L have been reported yet.
Clinical Sensitivity - Sequencing with CNV PGxome
In a study of 183 unrelated families affected by congenital anomalies of kidney and urinary tract (CAKUT), 16 (8.7%) heterozygous pathogenic or suspected pathogenic variants in GREB1L were identified, 12 of which were found in 54 cases (25.8%) with bilateral kidney agenesis in this cohort (De Tomasi et al. 2017. PubMed ID: 29100091).
In another study of 612 individuals affected by renal agenesis and hypodysplasia (RHD), 17 (2.8%) heterozygous pathogenic or suspected pathogenic variants in GREB1L were identified (Sanna-Cherchi et al. 2017. PubMed ID: 29100090).
No large deletions or duplications at GREB1L have been reported yet.
Testing Strategy
This test provides full coverage of all coding exons of the GREB1L 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 form of renal hypodysplasia/aplasia.
Candidates for this test are patients with autosomal dominant form of renal hypodysplasia/aplasia.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| GREB1L | 617782 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Renal Hypodysplasia/Aplasia 3 | AD | 617805 |
Citations
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
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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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.