Geroderma Osteodysplasticum (GO) via the GORAB 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 | |
|---|---|---|---|---|---|
| 7689 | GORAB | 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
Geroderma osteodysplasticum is a premature aging disorder affecting skin and bones. Major clinical features include wrinkly, loose skin in the face, abdomen, hands and feet, osteopenia and osteoporosis leading to bone fractures, malar and maxillary hypoplasia, mandibular prognathism and prematurely aged face. Some other features include bowed long bones, flattened spine, kyphoscoliosis, metaphyseal peg and joint hypermobility (Rajab et al. 2008; Hennies et al. 2008).
Genetics
Mutations in GORAB cause autosomal recessive geroderma osteodysplasticum. GORAB protein coded by the GORAB gene (also called SCYL1BP1) contains multiple phosphorylation sites and coiled-coil domains. It localizes to the Golgi apparatus and interacts with Rab proteins which play a key role in Golgi network trafficking (Hennies et al. 2008). To date, only 11 unique pathogenic variants have been reported. They are: 6 nonsense, 1 splicing, and 4 small deletion or insertion (Hennies et al. 2008; Al-Dosari and Alkuraya 2009). The c.306dupA (p.Pro103Thrfs*20) was identified in three affected consanguineous families from the central province in Saudi Arabia (Al-Dosari et al. 2009); reported as c.226_227insA, p.Q76QfsX20).
Clinical Sensitivity - Sequencing with CNV PG-Select
GORAB mutations were identified in all 14 clinical diagnosed GO families from two studies (Hennies et al. 2008; Al-Dosari et al. 2009). Analytical sensitivity should be high, because all reported GORAB mutations are point mutations or small deletions and duplications, which can be detected by sequencing. No large deletions and duplications have been reported (Human Gene Mutation Database).
Testing Strategy
This test provides full coverage of all coding exons of the GORAB 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 phenotypes consistent with geroderma osteodysplasticum such as wrinkly and loose skin, osteoporosis and the family members of patients who have known GORAB mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in GORAB.
Candidates for this test are patients with phenotypes consistent with geroderma osteodysplasticum such as wrinkly and loose skin, osteoporosis and the family members of patients who have known GORAB mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in GORAB.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| GORAB | 607983 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Geroderma Osteodysplasticum | AR | 231070 |
Related Tests
Citations
- Al-Dosari M, Alkuraya FS. 2009. A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. American Journal of Medical Genetics Part A 149A: 2093–2098. PubMed ID: 19681135
- Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, et al. 2008. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics 40: 1410–1412. PubMed ID: 18997784
- Human Gene Mutation Database (Bio-base).
- Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S. 2008. Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. American Journal of Medical Genetics Part A 146A: 965–976. PubMed ID: 18348262
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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