Craniosynostosis Panel

INDICATION-SPECIFIC GENE PANEL TESTING

 CraniosynostosisPanel

 

Craniosynostosis Panel

  

 

 

 

DETECTION ABILITIES:

  • This panel includes both full sequencing andhigh resolution deletion/duplication analysis.
  • Detection abilitiy is limited to the genes specified; it does not provide whole genome analysis.
  • Gene panels are a more cost-effective approach than single gene testing to confirm or establish a diagnosis.

GENES COVERED: 

FGFR1 FGFR2 FGFR3 TWIST

 

DISORDERS INCLUDED IN THIS PANEL:
*Several skeletal dysplasias are also covered by this panel because mutations in these genes can inhibit or alter bone growth.

  • FGFR-Related Craniosynostosis Disorders GeneReviews™
    • Apert
    • Beare-Stevenson
    • CrouzoCrouzon with acanthosis nigricans
    • Jackson-Weiss
    • Muenke GeneReviews™
    • Pfeiffer
    • FGFR2-related isolated coronal synostosis
  • Achondroplasia GeneReviews™
  • Hypochondroplasia GeneReviews™
  • Thanatophoric Dysplasia GeneReviews™
  • CATSHL (tall stature, hearing loss)
  • Kallmann (Isolated Gonadotropin Releasing Hormone Deficiency) GeneReviews™
  • LADD
  • Radioulnar synostosis
  • Rhizomelic limb shortening
  • Saethre-Chotzen GeneReviews™
  • Robinow-Sorauf

INDICATIONS FOR TESTING: 

  • Craniosynostosis
  • Facial features such as proptosis (bulging eyes), ptosis, widely spaced eyes, flattened midface, temporal bossing
  • Syndactyly, clinodactyly, broad toes, broad thumbs
  • Short stature or shortened long bones
  • Palatal abnormalities (cleft or high palate)
  • Bone fusions, especially carpal, tarsal, and radioulnar synostosis
  • Developmental delay, hearing loss, or vision concerns in a person suspected to have craniosynostosis or skeletal dysplasia

OUR LABORATORY'S RECOMMENDED TESTING STRATEGY 

Comprehensive Testing:  Connective Tissue Disorders

Next Generation Sequencing Panel with reflex to Deletion/Duplication Analysis

Next Generation Sequencing

  • Next generation sequencing (NGS) analyzes multiple genes at once, making this a cost-effective method of testing many potentially causative genes simultaneously rather than Sanger sequencing one gene at a time.

Targeted Deletion/Duplication Testing

  • If sequencing is normal, Deletion/Duplication Analysis of the genes in this panel is performed to identify partial or whole gene deletions and duplications responsible for the patient’s phenotype. Deletion/Duplication Analysis only evaluates the genes included in this panel.

NOTE:  Each of the tests recommended for comprehensive testing can be ordered individually if the comprehensive package is not desired. For questions regarding testing strategies for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.

COMPLEMENTARY TESTING:

Chromosomal abnormalities, including microdeletions and microduplications, are found in at least 15% of children with craniosynostosis including some children with isolated or single-suture craniosynostosis*. High Density SNP Microarray can be ordered simultaneously or in a tiered fashion to assess for these copy number changes.

*Reference Source: ARTICLE: Genetic Causes of Craniosynostosis. Pediatrics 2010.

For questions regarding the usefulness of complementary testing for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.

  

REQUIRED FORMS:   Postnatal Test Request Form

OTHER FORMS:   Request for Pre-Authorization for Genetic Testing (Postnatal Diagnoses on peripheral blood)  


SPECIMEN COLLECTION & SHIPPING

SPECIMEN REQUIREMENTS: 

  • Blood >3 mo of age: 3-5 ml in an EDTA tube (purple top)
  • Blood (newborn minimum requirement): 1 ml in an EDTA tube (purple top)
  • Buccal swab*: kits available upon request
  • Extracted DNA: 5 μg 

*Buccal swabs may not yield an adequate amount of DNA for next generation sequencing. Please contact our laboratory before sending buccal swabs for this testing methodology.


CPT CODES: 

  • Next Generation Sequencing: 81407
  • Targeted Deletion/Duplication Testing: 81228 

PRICING:   Contact the laboratory billing staff for current costs. 


TURN-AROUND-TIME:   Results are typically available in ­2-6 weeks. 


LINKS and REFERENCES: 


v14.1

CAP Accredited
CAP Graphic

CLIA Accredited
CMS Centers for Medicare & Medicaid Services Logo

contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

;