Galloway-Mowat Syndrome (GAMOS) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
12631 GON7 81479,81479 Order Options
LAGE3 81479,81479
NUP107 81479,81479
NUP133 81479,81479
OSGEP 81479,81479
TP53RK 81479,81479
TPRKB 81479,81479
WDR4 81479,81479
WDR73 81479,81479
YRDC 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12631 Genes x (10) 81479 81479 $960 Order Options

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

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, with the exception of Galloway-Mowat syndrome 2, which is inherited in an X-linked manner. 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). LAGE3 is the X-linked gene. Pathogenic variants in these ten genes consist of missense, splicing, and small deletion/duplication variants. Large deletions and duplications have not been reported in these genes. De novo variants are rare in these genes.

WDR73 plays a role in the regulation of the microtubule network that is crucial for the development of brain and kidney.

TPRKB, OSGEP, 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. YRDC is one of acting enzymes that is used in this modification pathway. WDR4 is another tRNA- modifying enzyme.

NUP107 and NUP133 encode components of the outer rings of the nuclear pore complex (NPC), which ensures proper exchange of components between the nucleus and cytoplasm.

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Testing Strategy

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

This panel provides 100% coverage of all coding exons of the genes 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 coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV PGxome

Since Galloway-Mowat syndrome is rare and only limited cases have been reported in each study, the clinical sensitivity of this panel is difficult to estimate. Defects in WDR73, OSGEP and NUP107 account for ~70% of documented pathogenic variants for this disorder in the Human Gene Mutation Database (HGMD).

Indications for Test

Candidates for this test are patients with symptoms suggestive of Galloway-Mowat syndrome (GAMOS).

Genes

Official Gene Symbol OMIM ID
GON7 617436
LAGE3 300060
NUP107 607617
NUP133 607613
OSGEP 610107
TP53RK 608679
TPRKB 608680
WDR4 605924
WDR73 616144
YRDC 612276
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

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 (Biobase).
  • Jinks et al. 2015. PubMed ID: 26070982

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.

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 Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

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