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Tenorio Syndrome via the RNF125 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
RNF125 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8501RNF12581479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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 platform).

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

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Tenorio syndrome, known as overgrowth, macrocephaly and intellectual disability syndrome, is one genetic cause of a group of overgrowth syndromes in which all parameters of growth and physical development are above the mean for age and sex. Major features include overgrowth, macrocephaly, intellectual disability, hypotonia, seizures and psychomotor impairment. Patients also present abnormality in skin, skeletal, cardiovascular and immune systems. Laboratory findings are hypoglycemia and hypoinsulinemia. MRI reveals structural brain abnormalities including cortical atrophy and ventricular asymmetry (Tenorio et al. 2014. PubMed ID: 25196541).

Genetics

Tenorio syndrome is inherited in an autosomal dominant manner and is caused by pathogenic variants in the RNF125 gene, which encodes RING finger protein 125. RNF125 is a RING finger E3 ubiquitin ligase with a RING domain, three zinc fingers and a ubiquitin interacting motif. RNF125 is an important ligase in cell ubiquitination which regulates almost every cellular process either through the destruction of target proteins or the spatial or temporal alteration of their functions. A study demonstrated that loss of function of RNF125 leads to dysregulation of the RIG-I-IPS1, PI3K-AKT, and interferon pathways, however, the exact pathogenic mechanism is unclear (Bijlmakers et al. 2016. PubMed ID: 27411375; Tenorio et al. 2014. PubMed ID: 25196541).

Reported pathogenic point variants in RNF125 are only missense. One large deletion involving the RNF125 locus has also been reported in Tenorio syndrome (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

In study of overgrowth syndrome, 4 out of 270 families were found to have a pathogenic variant in RNF125 (Tenorio et al. 2014. PubMed ID: 25196541).

Testing Strategy

This test provides full coverage of all coding exons of the RNF125 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

The test is recommended for patients suspected to have Tenorio syndrome.

Gene

Official Gene Symbol OMIM ID
RNF125 610432
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Tenorio Syndrome AD 616260

Citations

  • Bijlmakers et al. 2016. PubMed ID: 27411375
  • Human Gene Mutation Database (Bio-base).
  • Tenorio et al. 2014. PubMed ID: 25196541

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

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View Ordering Instructions

1) Select Test Method (Platform)


1) Select Test Type


2) Select Additional Test Options

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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