Meckel-Gruber Syndrome via the MKS1 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
4601 MKS1 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4601MKS181479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

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.

MKS clinical features overlap with a group of diseases known as ciliopathies, which include MKS, Joubert syndrome (OMIM 213300), Bardet-Biedl syndrome (OMIM 209900), nephronophthisis (OMIM 256100), Senior-Loken syndrome (OMIM 609294) and Leber congenital amaurosis.

Genetics

MKS exhibits autosomal recessive inheritance. To date, five MKS genes have been identified (MKS1, TMEM67/MKS3, CC2D2A, RPGRIP1L, and CEP290) (Kyttala et al. Nat Genet 38:155-157, 2006; Tallila et al. Hum Mut 30:E813-E830, 2009). The MKS1 gene encodes the Meckel syndrome type 1 protein (MKS1), which is predicted to have a role in ciliogenesis and renal tubulogenesis (Dawe et al. Hum Mol Genet 16:173-186, 2007). A mix of missense, nonsense, splicing, frameshift, and deletion variants have been reported in the MKS1 gene (Kyttala et al. 2006; Dawe et al. 2007; Consugar et al. Hum Genet 121:591-599, 2007; Tallila et al Hum Mut 30:E813-E830, 2009). A 29 bp deletion located just before exon 16 and which results in exon 16 skipping has been reported to comprise about 70% of mutant alleles (Consugar et al. 2007). Consugar et al. also reported that polydactyly was found much more often in patients with MKS1 variants than those with MKS3 variants.

Clinical Sensitivity - Sequencing with CNV PG-Select

The prevalence of the MKS1 variants is currently unknown. However, variants in the MKS1 gene are the most common cause of MKS (Consugar et al. Hum Genet 121:591-599, 2007; Tallila et al. Am J Hum Genet 82:1361-1367, 2009).

Testing Strategy

This test provides full coverage of all coding exons of the MKS1 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 MKS and family members of patients. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MKS1.

Gene

Official Gene Symbol OMIM ID
MKS1 609883
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Meckel Syndrome 1 AR 249000

Citations

  • 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
  • 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: 911–917. PubMed ID: 17094077
  • Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH, Torres VE, Breuning MH, Harris PC. 2007. Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Human Genetics 121: 591–599. PubMed ID: 17377820
  • Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA. 2006. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Human Molecular Genetics 16: 173–186. PubMed ID: 17185389
  • Kyttala, M., et.al. (2006). "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome." Nat Genet 38(2): 155-7. PubMed ID: 16415886
  • Tallila, J., et.al. (2008). "Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle." Am J Hum Genet 82(6): 1361-7. PubMed ID: 18513680

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


Specimen Types

Specimen Requirements and Shipping Details

loading Loading... ×

ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
×
Copy Text to Clipboard
×