Test name: Craniosynostosis Panel - Next Generation Sequencing
Disorders Included in This Panel:
- FGFR-Related Craniosynostosis Disorders GeneReviews™
- Crouzon with acanthosis nigricans
- Muenke GeneReviews™
- FGFR2-related isolated coronal synostosis
- Achondroplasia GeneReviews™
- Hypochondroplasia GeneReviews™
- Thanatophoric Dysplasia GeneReviews™
- CATSHL (tall stature, hearing loss)
- Kallmann (Isolated Gonadotropin Releasing Hormone Deficiency) GeneReviews™
- Radioulnar synostosis
- Rhizomelic limb shortening
- Saethre-Chotzen GeneReviews™
- 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
- Next generation sequencing (NGS), or “Next Gen” as it is frequently called, is a technology that analyzes multiple genes at once. It is a cost-effective method of testing many potentially causative genes simultaneously rather than ordering separate Sanger sequencing one gene at a time.
- Next Gen is most helpful in cases where a patient has findings suspicious of multiple potential genetic causes, generally the result of either clinical ambiguity due to marked phenotypic overlap between various syndromes or numerous genetic causes for a single disorder.
- Our systematic data analysis references the most current versions of primary genomic databases, which translates to better mutation classification (e.g., benign vs. pathogenic).
- Pathogenic changes are confirmed by traditional Sanger sequencing or by another appropriate testing method.
- Even after careful analysis, some variants cannot yet be classified as benign or pathogenic and, therefore, are variants of uncertain significance.
- Next Gen will identify sequence variation, but it will not identify large deletions or duplications. A complimentary test such as whole genome microarray analysis or gene-specific deletion/duplication analysis would be needed to identify genetic dosage abnormalities.
- Next Gen is NOT whole exome sequencing or whole genome sequencing. The test will only identify mutations in the genes included on the panel ordered.
- 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.
Specimen requirements: Test kits are available – please contact the laboratory
- Blood: One 3-5 ml EDTA (purple top) tube
CPT codes: 81404(x2)
Pricing: Contact the laboratory billing staff for current costs
Required forms: Postnatal Test Request Form
Turn-around time: 6-10 weeks
Step-by-step ordering instructions:
1) Access the postnatal test request form on the Human Genetics Laboratory website.
2) Complete the 2-page form. Under TEST SELECTION, mark the box next to the Next Generation Sequencing Craniosynostosis Panel.
3) Provide any clinical information that may be important for interpretation.
4) Obtain insurance pre-authorization when necessary; forms available.
5) Following HGL shipping & handling requirements, send completed test request form and specimen at room temperature within 24 hours of collection.