Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via the CTC1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesPrice Test CPT CodeGene CPT Codes Copy CPT Codes STAT Prenatal
8043 CTC1$890 8147981479,81479 Add to Order

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.

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

For Reflex to PGxome pricing click here.

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

For Sanger Sequencing 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

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a multisystem disorder particularly affecting the eye, brain, bone and gastrointestinal tract. It is also known as Coats plus syndrome due to the presence of presence of bilateral retinal telangiectasia and exudates (Coats disease), cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument (Crow et al. 2004; Linnankivi et al. 2006).

Genetics

CRMCC is an autosomal recessive disorder, which is caused by pathogenic variants in CTC1 gene. CTC protein is a member of the CTC1–STN1–TEN1 (CST) complex, which is critical for telomere replication. This explains the presence of critically shortened telomeres in CRMCC patients, and suggests that telomere dysfunction plays a key role in CRMCC pathogenesis (Gu and Chang 2013). So far, over 25 causative variants (missense, nonsense, splicing, small deletions and insertions) have been reported to be causative in CTC1 (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the CTC1 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.

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

A mutation screening in 10 CRMCC patients found that all patients were compound heterozygous for CTC1 pathogenic variants (Anderson et al. 2012). In another study in 15 CRMCC-Affected Individuals, 13 patients were compound heterozygous for CTC1 pathogenic variants (Polvi et al. 2012). These studies suggest that the clinical sensitivity is high. Analytical sensitivity should be high as well because all the reported CTC1 causative variants are detectable by sequencing.

Indications for Test

All patients with symptoms suggestive of Coats plus syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CTC1.

Gene

Official Gene Symbol OMIM ID
CTC1 613129
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Anderson BH. et al. 2012. Nature genetics. 44: 338-42. PubMed ID: 22267198
  • Crow YJ. et al. 2004. Neuropediatrics. 35: 10-9. PubMed ID: 15002047
  • Gu P., Chang S. 2013. Aging cell. 12: 1100-9. PubMed ID: 23869908
  • Human Gene Mutation Database (Bio-base).
  • Linnankivi T. et al. 2006. Neurology. 67: 1437-43. PubMed ID: 16943371
  • Polvi A. et al. 2012. American journal of human genetics. 90: 540-9. PubMed ID: 22387016

Ordering/Specimens

Ordering Options

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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