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Joubert and Meckel-Gruber Syndromes Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
AHI1 81407,81479
ARL13B 81479,81479
ARMC9 81479,81479
B9D1 81479,81479
B9D2 81479,81479
C2CD3 81479,81479
CC2D2A 81479,81479
CEP104 81479,81479
CEP120 81479,81479
CEP290 81408,81479
CEP41 81479,81479
CPLANE1 81479,81479
CSPP1 81479,81479
IFT172 81479,81479
INPP5E 81479,81479
KATNIP 81479,81479
KIAA0586 81479,81479
KIF14 81479,81479
KIF7 81479,81479
MKS1 81479,81479
NPHP1 81406,81405
NPHP3 81479,81479
OFD1 81479,81479
PDE6D 81479,81479
PIBF1 81479,81479
RPGRIP1L 81479,81479
SUFU 81479,81479
TCTN1 81479,81479
TCTN2 81479,81479
TCTN3 81479,81479
TMEM107 81479,81479
TMEM138 81479,81479
TMEM216 81479,81479
TMEM231 81479,81479
TMEM237 81479,81479
TMEM67 81407,81479
TTC21B 81479,81479
TXNDC15 81479,81479
ZNF423 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10387Genes x (39)81479 81405(x1), 81406(x1), 81407(x2), 81408(x1), 81479(x73) $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


  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Joubert Syndrome and related disorders (JSRD) are marked by hypotonia, abnormal ocular movements, neonatal respiratory difficulties, intellectual disability, hypoplasia of the cerebellar vermis, and malformation of the brainstem. The brain malformations lead to the "molar tooth sign" on cranial MRI, which is pathognomonic for JSRD. Other variable JSRD features include cystic kidneys, nephronophthisis, retinal dystrophy, ocular coloboma, occipital encephalocele, polydactyly, ataxia, and hepatic fibrosis. For more information, see Parisi et al. 2017. PubMed ID: 20301500; Doherty 2009. PubMed ID: 19778711; Parisi et al. 2007. PubMed ID: 17377524; Brancati et al. 2010. PubMed ID: 20615230.

Meckel-Gruber Syndrome (MKS) is also marked by brain malformation, cystic renal disease and polydactyly (Alexiev et al. 2006. PubMed ID: 16879033; Hartill et al. 2017. PubMed ID: 29209597). In MKS, the pathognomonic feature is occipital encephalocele, which is generally identified during routine sonography between 12 and 20 weeks of gestation. MKS is a common cause of prenatal echogenic kidneys (Chaumoitre et al. 2006. PubMed ID: 17094077). Nearly all MKS infants are stillborn or die shortly after birth (Hartill et al. 2017. PubMed ID: 29209597; Parisi et al. 2017. PubMed ID: 20301500).


JSRD and MKS are genetically heterogeneous; JSRD is known to be caused by pathogenic variants in at least 33 different genes and MKS is caused by pathogenic variants in at least 22 different genes (Hartill et al. 2017. PubMed ID: 29209597; Parisi et al. 2017. PubMed ID: 20301500; Knopp et al. 2015. PubMed ID: 26003401; Shaheen et al. 2016. PubMed ID: 27894351). JSRD and MKS are inherited in an autosomal recessive manner with the exception of OFD1, which displays an X-linked dominant inheritance pattern. Most of the genes reported to cause MKS have also been found to cause JSRD. MKS and JSRD have been proposed to represent a single clinical entity, with a spectrum of overlapping symptoms and causative genes. In support of this, the same pathogenic variants have been found in siblings; one diagnosed with MKS and another with JSRD (Valente et al. 2010. PubMed ID: 20512146). Variants predicted to be more damaging, such as nonsense or frameshift variants, are reported in fetuses with MKS, while milder variants, such as missense variants, are typically found in patients with JSRD (Romani et al. 2014. PubMed ID: 24886560; Slaats et al. 2016. PubMed ID: 26490104; Mougou-Zerelli et al. 2009. PubMed ID: 19777577; Delous et al. 2007. PubMed ID: 17558409).

All genes reported to cause MKS and JSRD play some role in the structure, function and maintenance of the primary cilia and/or basal body organelle (Hildebrandt et al. 2009. PubMed ID: 19118152). More information about the molecular biology of the gene products along with spectra of pathogenic variants may be found in the individual gene test descriptions.

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity for Joubert syndrome and related disorders is 62% - 94% (Parisi et al. 2017. PubMed ID: 20301500) and 50% - 77% for Meckel-Gruber syndrome (Knopp et al. 2015. PubMed ID: 26003401; Hartill et al. 2017. PubMed ID: 29209597).

Testing Strategy

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

This panel typically provides 99.1% 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

This test is for individuals with symptoms suggestive of MKS or JSRD and their families.

Related Test

Nephronophthisis and Senior-Loken Syndrome Panel


  • Alexiev et al. 2006. PubMed ID: 16879033
  • Brancati et al. 2010. PubMed ID: 20615230
  • Chaumoitre K. et al. 2006. PubMed ID: 17094077
  • Delous et al. 2007. PubMed ID: 17558409
  • Doherty 2009. PubMed ID: 19778711
  • Hartill et al. 2017. PubMed ID: 29209597
  • Hildebrandt et al. 2009. PubMed ID: 19118152
  • Knopp et al. 2015. PubMed ID: 26003401
  • Mougou-Zerelli et al. 2009. PubMed ID: 19777577
  • Parisi and Glass. 2017. PubMed ID: 20301500
  • Parisi et al. 2007. PubMed ID: 17377524
  • Romani et al. 2014. PubMed ID: 24886560
  • Shaheen et al. 2016. PubMed ID: 27894351
  • Slaats et al. 2016. PubMed ID: 26490104
  • Valente et al. 2010. PubMed ID: 20512146


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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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

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