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

  • NIPBL

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

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
Falecia Thomas, MS, CGC

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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