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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7689 GORAB 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7689GORAB81479 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

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.

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

Name
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via the ALDH18A1 Gene
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via the ATP6V0A2 Gene
Cutis Laxa, Type 1B (ARCL1B) via the EFEMP2 Gene
Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via the RIN2 Gene
Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene

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


Specimen Types

Specimen Requirements and Shipping Details

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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.
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