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
10387 AHI1 81407,81479 Order Options and Pricing
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, 81406, 81407, 81408, 81479 $890 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 PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

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).

Genetics

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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

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

Related Test

Name
PGxome®
Nephronophthisis and Senior-Loken Syndrome Panel

Citations

  • 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/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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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