Cantu Syndrome via the ABCC9 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 | |
|---|---|---|---|---|---|
| 11051 | ABCC9 | 81479 | 81479,81479 | $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.
Clinical Features and Genetics
Clinical Features
Cantú syndrome, also known as hypertrichotic osteochondrodysplasia, is a rare genetic disorder characterized by congenital hypertrichosis, macrosomia at birth, and cardiac defects (Cantú et al. Hum Genet 60:36-41, 1982). Cardiac defects, which include patent ductus arteriosus, septal hypertrophy, pulmonary hypertension, and pericardial effusions, are present in ~80% of cases (Cantú et al. Hum Genet 60:36-41, 1982; Scurr et al. Am J Med Genet A 155A:508-518, 2011). The hypertrichosis leads to thick scalp hair that can extend onto the forehead. Other clinical features include recurrent respiratory infections and skeletal defects.
Genetics
Cantú syndrome is inherited in an autosomal dominant manner. ABCC9 encodes for the channel regulator, SUR2A, a subunit of the ATP-sensitive potassium channel. All ABCC9 variants reported to date in patients with Cantú syndrome are heterozygous missense variants in highly conserved domains that appear to result in K-ATP channel opening (van Bon et al. Am J Hum Genet 90:1094-101, 2012; Harakalova et al. Nat Genet 44:793-796, 2012). ABCC9 causative variants commonly arise de novo (van Bon et al. Am J Hum Genet 90:1094-101, 2012; Harakalova et al. Nat Genet 44:793-796, 2012). In addition to Cantú syndrome, ABCC9 variants have been found in patients with dilated cardiomyopathy (Bienengraeber et al. Nat Genet 36:382-387, 2004) and atrial fibrillation (Olson et al. Nat Clin Pract Cardiovasc Med 4:110-116, 2007).
Clinical Sensitivity - Sequencing with CNV PGxome
Missense variants in ABCC9 have been reported in 25 out of 30 patients with Cantú syndrome (van Bon et al. Am J Hum Genet 90:1094-101, 2012; Harakalova et al. Nat Genet 44:793-796, 2012). The clinical sensitivity of this test for dilated cardiomyopathy or atrial fibrillation is unknown at this time.
Testing Strategy
This test provides full coverage of all coding exons of the ABCC9 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
Patients with symptoms suggestive of Cantú syndrome, dilated cardiomyopathy, and atrial fibrillation.
Patients with symptoms suggestive of Cantú syndrome, dilated cardiomyopathy, and atrial fibrillation.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| ABCC9 | 601439 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Atrial Fibrillation, Familial, 12 | AD | 614050 |
| Dilated Cardiomyopathy 1O | AD | 608569 |
| Hypertrichotic Osteochondrodysplasia | AD | 239850 |
Citations
- Bienengraeber, M., et.al. (2004). "ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating." Nat Genet 36(4): 382-7. PubMed ID: 15034580
- Cantú, J., et al. "A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity." Hum Genet 60(1):36-41, 1982 PubMed ID: 7076246
- Harakalova M., et al. (2012) "Dominant missense mutations in ABCC9 cause Cantú syndrome." Nat Genet 44(7):793-796. PubMed ID: 22610116
- Olson, T. M., et.al. (2007). "KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation." Nat Clin Pract Cardiovasc Med 4(2): 110-6. PubMed ID: 17245405
- Scurr I., et al. (2011) "Cantú syndrome: report of nine new cases and expansion of the clinical phenotype." Am J M21344641ed Genet A. 155A(3):508-518 PubMed ID: 21344641
- van Bon, BW., et al. (2012) "Cantú syndrome is caused by mutations in ABCC9." Am J Hum Genet. 90(6):1094-101. PubMed ID: 22608503
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.