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Cockayne Syndrome via the ERCC8 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
11299 ERCC8 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11299ERCC881479 81479(x2) $890 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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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).

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

For Sanger Sequencing click here.

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

  • Hannah Cox, PhD

Clinical Features and Genetics

Clinical Features

Cockayne Syndrome (CS) presents with sun-sensitivity and postnatal growth failure, but does not have increased skin cancer rates. Other minor features include cachexia, neurological, psychomotor, and mental developmental delays, cataracts, retinopathy, deafness, dental caries, and characteristic facies (Thoms et al. Experimental Dermatology 16:532–544, 2007). Other characteristics include growth retardation, microcephaly and calcifications of the basal ganglia or elsewhere in the central nervous system. Pathologically, neurological impairment correlates with primary demyelinization of neurons. This contrasts to the primary neuronal degeneration found in XP patients. There are three forms of CS: (1) CS Type I is the classic/moderate form usually noticed by 1-2 years of age; (2) CS Type II is the severe form noticed in the neonatal period; and (3) CS Type III is the least severe and later-onset form (Laugel. GeneReviews. 2012). The prevalence of CS is 2.3 per 1,000,000 livebirths, but this is considered a conservative estimate (Kleijer et al. DNA Repair (Amst) 7:744–50, 2008).

Genetics

Cockayne syndrome is an autosomal recessive disorder. To allow for proper repair and continuation of transcription, the ERCC6 and ERCC8 protein products appear to play an important role in the temporary removal of stalled polymerase II .Interestingly, nucleotide excision repair in cells of CS patients is defective in transcription couple repair (TCR), but exhibits normal global genome repair. This may help to explain the lack of cancer development; whereas both pathways are usually defective in Xeroderma Pigmentation patients who have high rates of skin cancer. Also of interest is that CS cells can repair 6-4 photoproducts, unlike cells from XP patients. Finally, CS cells exhibit an increased rate of apoptosis because of TCR failure and blockage of transcription. Enhanced apoptosis of initially damaged cells could also prevent tumor cell development. (Thoms et al. Experimental Dermatology 16:532–544, 2007). The majority of mutations in ERCC8 are missense, nonsense, and splicing. Less common types of mutations include small and large deletions and insertions (Human Gene Mutation Database). There is no reported genotype-phenotype correlation (Laugel. GeneReviews. 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

Mutations in ERCC8 cause Cockayne syndrome complementation group type A, which accounts for 35% of cases.

Testing Strategy

This test provides full coverage of all coding exons of the ERCC8 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

Individuals who are suspected of Cockayne Syndrome or UV-sensitive syndrome 2. Individuals with a family history of these disorders and who want to know their carrier status of ERCC8 mutations. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Gene

Official Gene Symbol OMIM ID
ERCC8 609412
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Cockayne Syndrome Type I AR 216400
UV-sensitive syndrome 2 AR 614621

Citations

  • Human Gene Mutation Database (Bio-base).
  • Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NGJ, Sarasin A, Stefanini M, Lehmann AR. 2008. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair 7: 744–750. PubMed ID: 18329345
  • Laugel. (2012). "Cockayne Syndrome." GeneReviews. PubMed ID: 20301516
  • Thoms et al. (2007). "Lessons learned from DNA repair defective syndromes." Experimental Dermatology 16:532–544. PubMed ID: 17518994

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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