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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 4601 | MKS1 | 81479 | 81479,81479 | $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.
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.
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
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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ORDER OPTIONS
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2) Select Additional Test Options
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