Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via the PTCH1 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
10673 PTCH1 81479 81479,81479 $540 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10673PTCH181479 81479 $540 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.

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

Nevoid basal cell carcinoma syndrome/Gorlin syndrome (OMIM 109400) is characterized by adolescent and early adult multiple jaw keratocysts or basal cell carcinomas (BCCs). Other features include macrocephaly, frontal bossing, coarse facial features, palmar/plantar pits, cardiac and ovarian fibromas, skeletal abnormalities (e.g., bifid ribs, wedge-shaped vertebrae), and facial milia. Infrequently children will develop medulloblastoma (primitive) around 2 years of age (Evans et al. GeneReviews. 2011). It has a birth incidence of ~1:19,000 (Evans et al. 2010. Am J Med Genet A. 152A:327).

Genetics

Nevoid basal cell carcinoma syndrome/Gorlin syndrome is caused by variants in the PTCH1 gene, which encodes a tumor suppressor. Inactivation of the PTCH1 gene results in carcinomas and cysts, whereas alterations in the concentration of PTCH1 during dosage-sensitive hedgehog signaling pathways lead to congenital malformations (Villavicencio et al. Am J Hum Genet Nov;67(5):1047-54, 2000). Nevoid basal cell carcinoma syndrome is inherited in an autosomal dominant manner. Approximately 70-80% individuals have inherited PTCH1 variants from an affected parent, and approximately 20-30% have a de novo (not inherited) variant. It presents with complete penetrance and variable expressivity (Evans et al. GeneReviews. 2011). Variants in PTCH1 include missense, nonsense, splice site, small insertions and deletions, small indels, and large deletions (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Sequence analysis of PTCH1 coding exons and exon-intron junctions will be able to detect causative variants in 50-85% of patients with NBCC (Evans and Farndon GeneReviews. 2011). Large deletions of PTCH1 will be detected in approximately 6% of patients with NBCC (Evans and Farndon GeneReviews. 2011).

Testing Strategy

This test provides full coverage of all coding exons of the PTCH1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with a clinical presentation or have a family history of nevoid basal cell carcinoma syndrome/Gorlin syndrome. PTCH1 variants are also found as a cause of holoprosencephaly. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.

Gene

Official Gene Symbol OMIM ID
PTCH1 601309
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Gorlin Syndrome AD 109400

Related Tests

Name
Holoprosencephaly-7 (Autosomal Dominant, Nonsyndromic) via the PTCH1 Gene
Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via the SUFU Gene

Citations

  • Evans et al. GeneReviews. 2011
  • Evans et al. GeneReviews. 2011.
  • Evans DG, Farndon PA. 2002. Nevoid Basal Cell Carcinoma Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301330
  • Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F. 2010. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am. J. Med. Genet. A 152A: 327–332. PubMed ID: 20082463
  • Evans et al. Am J Med Genet A. 2010 Feb;152A(2):327-32.
  • Villavicencio et al. (2000). "The sonic hedgehog-patched-gli pathway in human development and disease." Am J Hum Genet.  Nov;67(5):1047-54. PubMed ID: 11001584

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

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2) Select Additional Test Options

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

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