Kabuki syndrome : KMT2D Sequencing

Test Information

KMT2D sequencing is a molecular test used to identify variants in the gene associated with Kabuki syndrome.

Turnaround Time

6 weeks

CPT Code(s)

81479

Cost

$1,500

Genes

Clinical Information

Kabuki syndrome is characterized by distinctive facial features, mild to moderate intellectual disability, postnatal growth deficiency, finger tip pads, and skeletal abnormalities, such as brachydactyly and vertebral defects. Characteristic facial features include long palpebral fissures with eversion of the lower lateral eyelid, depressed nasal tip, and high-arched eyebrows. Other features associated with Kabuki syndrome include cleft palate, congenital heart defects, and early breast development in females. This condition is inherited in an autosomal dominant manner.

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

Mutations in the KMT2D gene may account for more than 60% of patients with a clinical diagnosis of Kabuki syndrome.

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
Meet Ella

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 Dr. Roger Stevenson ...

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