Galloway-Mowat Syndrome (GAMOS) via the OSGEP Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
13035 OSGEP 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
13035OSGEP81479 81479(x2) $890 Order Options and Pricing

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

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

Galloway-Mowat syndrome (GAMOS) is an extremely rare autosomal recessive disorder characterized by neurological impairments, developmental abnormalities and early-onset nephrotic syndrome (Colin et al. 2014. PubMed ID: 25466283; Jinks et al. 2015. PubMed ID: 26070982). The primary features are infantile onset of cerebellar atrophy, microcephaly and proteinuria.

Other features include, but are not limited to, hiatal hernia, seizures, dystonia, generalized hypotonia, and visual impairment. These features are variable among patients, and have overlapping presentations with other disorders. Genetic testing is essential for differential diagnosis.

Genetics

Galloway-Mowat syndrome represents a clinically and genetically heterogeneous group of autosomal recessive disorders. To date, ten genes have been associated with Galloway-Mowat syndrome: WDR73, NUP107, NUP133, WDR4, TPRKB, OSGEP, TP53RK, LAGE3, GON7, and YRDC (Colin et al. 2014. PubMed ID: 25466283; Jinks et al. 2015. PubMed ID: 26070982; Braun et al. 2017. PubMed ID: 28805828; Braun et al. 2018. PubMed ID: 30179222; Braun et al. 2018. PubMed ID: 30079490; Arrondel et al. 2019. PubMed ID: 31481669). OSGEP is one of major causative genes for the disease.

Loss-of-function is the underlying mechanism of OSGEP for Galloway-Mowat syndrome. To date, documented pathogenic variants in OSGEP consist of missense, splicing, and small frameshift deletion/duplication variants. Large deletions and duplications have not been reported in this gene. De novo variants are rare in this gene.

OSGEP, alongside the four genes TPRKB, TP53RK, LAGE3 and GON7, encode the subunits of the highly conserved KEOPS complex (Kinase, Endopeptidase and Other Proteins of small Size), which is essential for a universal chemical modification of tRNAs. OSGEP has been cited as a conditional gene for growth of human tissue culture cells (Online Gene Essentiality, ogee.medgenius.info). The phenotype of microcephaly resulting in early lethality has been seen in CRISPR/Cas9 knockout in zebrafish and mice (Braun. 2017. PubMed ID: 28805828).

Clinical Sensitivity - Sequencing with CNV PGxome

Defects in WDR73, OSGEP and NUP107 account for ~70% of documented pathogenic variants for Galloway-Mowat syndrome in the Human Gene Mutation Database (HGMD). In a whole-exome sequencing study of patients with Galloway-Mowat syndrome, 22 of 91 (~24%) families were found to have pathogenic variants in OSGEP (Braun et al. 2017. PubMed ID: 28805828).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the OSGEP gene 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 full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with Galloway-Mowat syndrome (GAMOS). Targeted testing is indicated for family members of patients who have known pathogenic variants in OSGEP. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in OSGEP.

Gene

Official Gene Symbol OMIM ID
OSGEP 610107
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Galloway-Mowat Syndrome 3 AR 617729

Citations

  • Arrondel et al. 2019. PubMed ID: 31481669
  • Braun et al. 2017. PubMed ID: 28805828
  • Braun et al. 2018. PubMed ID: 30179222
  • Braun et al. 2018. PubMed ID: 30079490
  • Colin et al. 2014. PubMed ID: 25466283
  • Human Gene Mutation Database (HGMD).
  • Jinks et al. 2015. PubMed ID: 26070982
  • Online Gene Essentiality (OGEE).

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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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.
Total Price: $
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