Saethre-Chotzen syndrome : TWIST1 Sequencing

Test Information

TWIST1 sequencing is a molecular test used to identify variants in the gene associated with Saethre-Chotzen syndrome.

Turnaround Time

2 weeks

CPT Code(s)

81404

Cost

$350

Genes

Clinical Information

Saethre-Chotzen Syndrome is one of the most common autosomal dominant disorders of craniosynostosis, affecting approximately 1/2000 newborn infants. It is characterized by craniofacial and limb anomalies. Mutations in the TWIST1 gene, which maps to chromosome 7p21-p22 are found in a majority of individuals with Saethre-Chotzen syndrome. Nonsense, missense, insertion, and deletion mutations of the TWIST1 gene have been found in studies of patients with Saethre-Chotzen syndrome.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

Sanger sequencing

Detection

Sequencing of the gene will detect mutations in approximately 70% of individuals with Saethre-Chotzen syndrome.

Specimen Requirements

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube – at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Sanger Sequencing
Meet the Shenal Family

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without their...

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