Kabuki Syndrome

Disorder Kabuki Syndrome
Gene Name MLL2
Clinical info 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.
Detection Mutations in the MLL2 gene may account for more than 60% of patients with a clinical diagnosis of Kabuki syndrome.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping.  FedEx is preferred.  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.
Turnaround time 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81479

Known mutation: 81404

Deletion/Duplication Analysis: 81229
Cost $2500 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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