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Kohlschutter-Tonz syndrome (KTS) via the ROGDI 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
7125 ROGDI 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7125ROGDI81479 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

  • Eric Bend, PhD

Clinical Features and Genetics

Clinical Features

Kohlschutter-Tonz syndrome is characterized by severe global developmental delay, early-onset seizures, spasticity, and enamel defects which affect both primary and secondary dentitions (Schossig et al. 2012; Mory et al. 2012).

Genetics

Mutations in ROGDI cause autosomal recessive Kohlschutter-Tonz syndrome. The ROGDI protein coded by the ROGDI gene is a leucine-zipper protein containing a helix motif and a loop structure with unknown function (Mory et al. 2012; Schossig et al. 2012). It is widely expressed in multiple tissues with preferentially higher expression in adult brain, spinal cord, peripheral blood, heart and bone marrow (Mory et al. 2012). It is speculated that ROGDI protein interacts with DISC1, a protein involved in diverse cytoskeletal functions such as cytoskeletal stability, neuron-migration and cell division (Schossig et al. 2012). To date, only 9 unique pathogenic variants have been reported. They are: 2 nonsense, 2 splicing, and five small deletion or duplication (Mory et al. 2012; Schossig et al. 2012; Tucci et al.). A homozygous mutation c.469C>T (p.Arg157*) was detected in five affected consanguineous KTS families from a Druze village in northern Israel (Mory et al. 2012).

Clinical Sensitivity - Sequencing with CNV PG-Select

ROGDI mutations were identified in 5 out of 10 clinically diagnosed KTS families (Tucci et al. 2013). 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 ROGDI 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 KTS such as cognitive disability, spasticity, epilepsy and enamel defect and the family members of patients who have known ROGDI mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ROGDI.

Gene

Official Gene Symbol OMIM ID
ROGDI 614574
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Kohlschutter-Tonz syndrome AR 226750

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Citations

  • Human Gene Mutation Database (Bio-base).
  • Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N, Mandel H, Valente EM, Amselem S, Gershoni-Baruch R. 2012. A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome. Am J Hum Genet 90: 708–714. PubMed ID: 22482807
  • Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, et al. 2012. Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. Am. J. Hum. Genet. 90: 701–707. PubMed ID: 22424600
  • Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tonz O, Kotzot D, Haberlandt E, Amberger A, et al. 2012. Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. Am J Hum Genet 90: 701–707.
  • Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, et al. 2013. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum. Mutat. 34: 296–300. PubMed ID: 23086778

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.
Total Price: $
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