TWIST1 Deletion/Duplication

Saethre-Chotzen syndrome (SCS) is caused by either sequence variants or deletions of the TWIST1 gene. It is inherited in an autosomal dominant manner. Mutations may be inherited from an affected parent or may be de novo.

SCS is characterized by coronal synostosis, facial asymmetry, ptosis, and a distinctive ear appearance of a small pinna with prominent crus. In some cases there may also be syndactyly of digits 2 and 3 on the hand. Intellect is generally normal, although individuals with a large deletion are more likely to have developmental delays.

This laboratory performs both Sanger sequencing of the TWIST1 gene and deletion/duplication by MLPA.

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Test Code

Turn Around Time
2-3 weeks


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Ordering Guidance

In the case of coronal craniosynostosis and absence of other hallmark features, typically FGFR2 sequencing, FGFR3 Muenke mutation analysis, and TWIST sequencing and deletion/duplication are ordered in combination

If there are questions regarding this test, please contact Client Services at 617-553-5880 or


Genes Covered