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Joubert and Meckel-Gruber Syndromes via the CEP290 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
CEP290 81408 81408,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3119CEP29081408 81408,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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


  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Joubert syndrome (JS) (OMIM 213300) is marked by hypotonia, abnormal ocular movements, neonatal respiratory difficulties, mental retardation, hypoplasia of the cerebellar vermis, and malformation of the brainstem. The brain malformations lead to the "molar tooth sign" on cranial MRI, which is the hallmark clinical feature of JS. Other variable JS features include cystic kidneys, nephronophthisis, retinal dystrophy, ocular coloboma, occipital encephalocele, polydactyly, ataxia, and hepatic fibrosis. For more information, see Parisi and Glass (GeneReviews, 2007) and Parisi et al. (Eur J Hum Genet 15:511-521, 2007).

Meckel-Gruber syndrome (MKS) (OMIM 249000) is characterized by occipital encephalocele, polycystic kidneys, hepatic developmental defects, and postaxial polydactyly (Alexiev et al. Arch Pathol Lab Med 130:1236-1238, 2006). MKS is a common cause of prenatal echogenic kidneys (Chaumoitre et al. Ultrasound Obstet Gynecol 28:911-917, 2006). Nearly all MKS infants are stillborn or die shortly after birth. The clinical features of JS and MKS clearly overlap.


JS and MKS both exhibit autosomal recessive inheritance. Both disorders have high levels of locus heterogeneity. Variants in the CEP290 gene cause both JS and MKS (Sayer et al. Nat Genet 38:674-681, 2006).The CEP290 gene encodes the centrosomal protein-290 KD, or CEP290, which is localized to the centrosome/primary cilia (Valente et al. Nat Genet 38:623-625, 2006). Although the precise function of the CEP290 is not known, it has been proposed to have a role in cilia and centrosome structure and function (Valente et al. 2006). A mix of nonsense, frameshift, splicing, deletion, insertion, and missense variants has been reported in the CEP290 gene (Valente et al. 2006; Sayer et al. 2006; Brancati et al. Am J Hum Genet 81:104- 113, 2007). Other cases of JS have also been linked to variants in the AHI1, TMEM67/MKS3, CC2D2A, RPGRIP1L, INPP5E, ARL13, TMEM216, and NPHP1 genes, while other MKS cases have been linked to variants in MKS1, TMEM67/MKS3, CC2D2A, and RPGRIP1L. PreventionGenetics performs tests for all of these genes.

Clinical Sensitivity - Sequencing with CNV PG-Select

The prevalence of JS is about 1 in 100,000. The following are the approximate fractions of patients with variants in the indicated genes for Joubert syndrome: CEP290 10%, AHI1 10%, TMEM67/MKS3 10%, CC2D2A 10%, RPGRIP1L 2%, ARL13B 2%, NPHP1 2% (Parisi et al. 2007). The numbers for MKS are approximately CEP290 10%, MKS1 15%, TMEM67/MKS3 15%, CC2D2A 10%, RPGRIP1L 2%.

Testing Strategy

This test provides full coverage of all coding exons of the CEP290 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with symptoms consistent with JS or MKS and family members of patients who have known variants. Conclusive connections between clinical features and individual mutated genes have not yet been made. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CEP290.


Official Gene Symbol OMIM ID
CEP290 610142
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Joubert Syndrome 5 AR 610188
Meckel Syndrome 4 AR 611134

Related Tests

Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene
Leber Congenital Amaurosis Panel
Nephronophthisis and Senior-Loken Syndrome Panel
Retinitis Pigmentosa Panel


  • Alexiev BA, Lin X, Sun CC, Brenner DS. 2006. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch. Pathol. Lab. Med. 130: 1236-1238. PubMed ID: 16879033
  • Brancati, F., et.al. (2007). "CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders." Am J Hum Genet 81(1): 104-13. PubMed ID: 17564967
  • Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F, Avni EF. 2006. Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. Ultrasound Obstet Gynecol 28: 911917. PubMed ID: 17094077
  • Parisi M, Glass I. 2013. Joubert Syndrome and Related Disorders. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301500
  • Parisi MA, Doherty D, Chance PF, Glass IA. 2007. Joubert syndrome (and related disorders) (OMIM 213300). Eur. J. Hum. Genet. 15: 511521. PubMed ID: 17377524
  • Sayer, J. A., et.al. (2006). "The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4." Nat Genet 38(6): 674-81. PubMed ID: 16682973
  • Valente, E. M., et.al. (2006). "Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome." Nat Genet 38(6): 623-5. PubMed ID: 16682970


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

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