Craniosynostosis
NGS panel

Genes
(full coding
region):		 ALX4, CD96, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FLNA, GLI3, IHH, IL11RA, MSX2, POR, RAB23, RECQL4, SEC24D, SKI, SMAD6, SOX9, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the TWIST1 gene

Genes: TWIST1
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Prenatal diagnosis for known familial mutation
3. Genetic counseling

Craniosynostosis is caused by the premature fusion of one or multiple cranial sutures, often leading to abnormal head shape and facial features. In some cases craniosynostosis can result in increased intracranial pressure causing visual impairment, eating difficulties, and neurodevelopmental disability.

Craniosynostosis can occur in an isolated setting (nonsyndromic) or as part of a genetic syndrome (e.g. Crouzon, Pfeiffer, Apert, Muenke, and Saethre-Chotzen syndromes). Approximately 85 % of all cases of craniosynostosis are nonsyndromic.

The prevalence of craniosynostosis is estimated to affect 1 in 2,000 to 2,500 live births worldwide.

References:

Gault DT et al . Intracranial pressure and intracranial volume in children with craniosynostosis. Plast. Reconstr. Surg. 1992 Sep. 90 (3): 377–81.
Heuzé Y et al. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep. 2014 Sep 1;2(3):135-145.
Slater BJ et al. Cranial sutures: a brief review. 2008 April. Plast. Reconstr. Surg. 121 (4): 170e–8e.