Hydrocephalus, Congenital, 1 via the CCDC88C 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 | |
|---|---|---|---|---|---|
| 10667 | CCDC88C | 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
Hydrocephalus, congenital, 1 is non-syndromic hydrocephalus characterized by severe hydrocephalus with onset from prenatal to infantile, mild to severe intellectual disability, seizures, developmental delay, and varying degrees of motor delay. Prenatal ultrasound can reveal enlarged ventricles in the brain. Brain MRI shows marked ventricular dilatation, interhemispheric cystic structure and small cerebellum (Drielsma et al. 2012. PubMed ID: 23042809; Ekici et al. 2010. PubMed ID: 21031079; Ruggeri et al. 2018. PubMed ID: 29341397).
Genetics
Hydrocephalus, congenital, 1 is inherited in an autosomal recessive manner and caused by pathogenic variants in the CCDC88C gene which encodes coiled-coil domain-containing protein 88C. CCDC88C protein has been shown to be a key regulator of the Wnt signaling pathway which plays a role in establishing planar cell polarity in ependymal cells that line the ventricular zone. The ependymal motile cilia are necessary for the proper flow of cerebrospinal fluid (CSF) (Drielsma et al. 2012. PubMed ID: 23042809; Ekici et al. 2010. PubMed ID: 21031079; Ruggeri et al. 2018. PubMed ID: 29341397). Pathogenic variants in CCDC88C gene include missense, nonsense, splicing, and a small frameshift deletion. No large deletions and duplications have been reported yet (Human Gene Mutation Database).
Clinical Sensitivity - Sequencing with CNV PGxome
Clinical sensitivity of CCDC88C testing in a large cohort of patients with hydrocephalus, congenital, 1 relevant phenotypes is unavailable in the literature because all cases are case reports. This gene appears to be one of the common causes of congenital hydrocephalus. Analytical sensitivity is high.
Testing Strategy
This test provides full coverage of all coding exons of the CCDC88C 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
CCDC88C sequencing is recommended for patients who are suspected to have hydrocephalus, congenital, 1. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CCDC88C.
CCDC88C sequencing is recommended for patients who are suspected to have hydrocephalus, congenital, 1. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CCDC88C.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| CCDC88C | 611204 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Hydrocephalus, Nonsyndromic, 1 | AR | 236600 |
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.