Cornelia de Lange syndrome : NIPBL Sequencing

Test Information

NIPBL sequencing is a molecular test used to identify variants in the gene associated with Cornelia de Lange syndrome 1.

Turnaround Time

6 weeks

CPT Code(s)

81479

Cost

$1,500

Genes

Clinical Information

Cornelia de Lange syndrome is characterized by growth retardation of prenatal onset, microcephaly, small hands and feet, limb abnormalities, and reflux. Dysmorphic features include synophrys, upturned nose, downturned mouth, and low-set ears. Long eyelashes are common as are hirsuitism and a coarsened appearance . Cleft palate, kidney abnormalities, and heart defects are present in some patients. Intellectual disability is common, and many individuals with Cornelia de Lange also experience hearing loss. Other issues may include self-injurious behaviors, obsessive-compulsive disorder, and autistic tendencies. Cornelia de Lange syndrome often results from de novo autosomal dominant mutations in NIPBL, RAD21, or SMC3, while SMC1A and HDAC8 demonstrate X-linked inheritance with both males and females exhibiting symptoms. Cornelia de Lange shows variable expressivity although individuals with NIPBL mutations tend to show more severe phenotypes.

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

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

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
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