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Hydrocephalus Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
AKT3 81479,81479
AP1S2 81479,81479
BLTP1 81479,81479
CCDC88C 81479,81479
CCND2 81479,81479
CENPF 81479,81479
CFAP43 81479,81479
CRB2 81479,81479
DNAI1 81479,81479
EML1 81479,81479
FLNA 81479,81479
FLVCR2 81479,81479
FMN2 81479,81479
FOXJ1 81479,81479
FXYD2 81479,81479
GPSM2 81479,81479
HDAC6 81479,81479
KIDINS220 81479,81479
L1CAM 81407,81479
MCIDAS 81479,81479
MPDZ 81479,81479
MTOR 81479,81479
OTUD5 81479,81479
P4HB 81479,81479
PIK3CA 81479,81479
PIK3R2 81479,81479
POMK 81479,81479
POMT1 81406,81479
PTCH1 81479,81479
PTEN 81321,81323
SEC24D 81479,81479
SHH 81479,81479
SMARCC1 81479,81479
TBX15 81479,81479
TRAPPC12 81479,81479
TRIM71 81479,81479
WDR81 81479,81479
ZIC3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
7939Genes x (38)81479 81321(x1), 81323(x1), 81406(x1), 81407(x1), 81479(x72) $990 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

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.


Genetic Counselors


  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Hydrocephalus is a complex condition influenced by both genetic and environmental factors. Congenital hydrocephalus affects 4.65 per 10,000 births (Shaheen et al. 2017. PubMed ID: 28556411). The genetic form of hydrocephalus can be caused by a group of heterogeneous disorders affecting the ventricular system of the brain with excessive accumulation of cerebrospinal fluid (CSF). It can present either in an isolated form (congenital or pure hydrocephalus) or in conjunction with other genetic anomalies. The symptoms of hydrocephalus vary with age, cause, and disease progression. Onset can be prenatal. In infancy, the major features of hydrocephalus are characterized by a rapid increase in head circumference or an unusually large head size, vomiting, sleepiness, irritability, downward deviation of the eyes and seizures. In older children, clinical features may include headache, vomiting, nausea, blurred vision, downward deviation of the eyes, and gait disturbance. Additional features include developmental delay, intellectual disability, spasticity, and many other minor features specific to particular genes.

Cranial imaging techniques such as ultrasonography, CT, MRI, or pressure-monitoring techniques are useful in the diagnosis of patients with hydrocephalus (Shaheen et al. 2017. PubMed ID: 28556411; Al-Jezawi et al. 2018. PubMed ID: 29499638; Saugier-Veber et al. 2017. PubMed ID: 28460636; Ekici et al. 2010. PubMed ID: 21031079). As hydrocephalus can be caused by defect in many genes with variable and overlapping presentations, they can be difficult to diagnose by clinical manifestation and image study only. Therefore, an accurate molecular diagnosis become critical for treatment, prognosis, prediction of recurrence risk, as well as future family planning.


The genetic etiology of the Hydrocephalus is extremely heterogeneous, ranging from monogenic causes with little or no influence from modifiers or environmental factors to genetically complex forms. Hydrocephalus can be inherited in an autosomal dominant, autosomal recessive and X-linked manner or through complex inheritance. In this panel, we mainly focus on familial, congenital hydrocephalus causative genes, as well as genes for other genetic disorders with hydrocephalus (Shaheen et al. 2017. PubMed ID: 28556411; Jin et al. 2020. PubMed ID: 33077954). The type of pathogenic variant varies with different genes; for example, the majority of pathogenic variants in L1CAM and AP1S2 are truncating variants, whereas those in CCND2 are missense variants (Human Gene Mutation Database).

The selected genes are involved in cellular processes, such as neural cell adhesion (L1CAM), planar cell polarity (MPDZ), the Wingless/integrated WNT signaling pathway (CCDC88C), or vesicle transport within the cell (AP1S2) (Shaheen et al. 2017. PubMed ID: 28556411; Al-Jezawi et al. 2018. PubMed ID: 29499638; Saugier-Veber et al. 2017. PubMed ID: 28460636; Ekici et al. 2010. PubMed ID: 21031079; Cacciagli et al. 2014. PubMed ID: 23756445).

See individual gene test descriptions for information on molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

This panel focuses on isolated hydrocephalus, as well as disorders with ventriculomegaly as one of their symptoms. The sensitivity is variable depending on different disorders. For example, the most common heritable form is caused by pathgenic variants in L1CAM and accounts for up to 10% of males with X-linked isolated idiopathic hydrocephalus. In this panel, the most common causative genes are L1CAM, AP1S2, MPDZ and CCDC88C (Al-Jezawi et al. 2018. PubMed ID: 29499638).

Testing Strategy

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

This panel typically provides 99.3% coverage of all coding exons of the genes 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 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

The Hydrocephalus panel is recommended for patients suspected to have isolated, congenital or pure hydrocephalus.


Name Inheritance OMIM ID
Alkuraya-Kucinskas syndrome AR 617822
Band Heterotopia AR 600348
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia XL 300863
Chudley-McCullough syndrome AR 604213
Ciliary Dyskinesia, Primary, 1 AR 244400
Ciliary dyskinesia, primary, 42 AR 618695
Ciliary dyskinesia, primary, 43 AD 618699
Cole-Carpenter Syndrome 1 AD 112240
Cole-Carpenter Syndrome 2 AR 616294
Cousin Syndrome AR 260660
Cowden Disease AD 158350
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity AR 617669
FG Syndrome 2 XL 300321
Focal Cortical Dysplasia Of Taylor 607341
Holoprosencephaly 3 AD 142945
Holoprosencephaly 7 AD 610828
Hydrocephalus, congenital communicating, 1 AD 618667
Hydrocephalus, Nonsyndromic, 1 AR 236600
Hydrocephalus, Nonsyndromic, 3 AR 617967
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 AR 615219
Hydrocephalus, normal pressure, 1 AD 236690
Hypomagnesemia 2, Renal AD 154020
Macrocephaly/Autism Syndrome AD 605309
MASA Syndrome XL 303350
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic 602501
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 AD 603387
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 AD 615937
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 AD 615938
Mental Retardation, Autosomal Recessive 47 AR 616193
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked XL 301056
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 AR 615249
Pettigrew Syndrome XL 304340
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome AR 225790
Smith-Kingsmore Syndrome AD 616638
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity AD 617296
Stromme syndrome AR 243605
VACTERL Association With Hydrocephaly, X-Linked XL 314390
Ventriculomegaly with Cystic Kidney Disease AR 219730
Walker-Warburg Congenital Muscular Dystrophy AR 236670
X-Linked Hydrocephalus Syndrome XL 307000
X-Linked Periventricular Heterotopia XL 300049

Related Test



  • Al-Jezawi et al. 2018. PubMed ID: 29499638
  • Cacciagli et al. 2014. PubMed ID: 23756445
  • Ekici et al. 2010. PubMed ID: 21031079
  • Human Gene Mutation Database (HGMD).
  • Jin et al. 2020. PubMed ID: 33077954
  • Saugier-Veber et al. 2017. PubMed ID: 28460636
  • Shaheen et al. 2017. PubMed ID: 28556411


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