|KMT2D (MLL2) Gene Sequencing||
Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
|Container Type||Container Size||Specimen Volume|
Purple tube (EDTA)
Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)
- Do not freeze
- Do not centrifuge
Reasons for Rejection
- Frozen specimen
- Wrong collection tube
- Centrifuged specimen
- Clotted specimen
Submission of the completed Genetic Test Requisition Form containing clinical information is required, and submission of the completed Consent Form is recommended.
This test is a full gene sequencing analysis of the KMT2D gene (previously known as MLL2 gene). Kabuki syndrome is a rare autosomal dominant genetic disorder characterized by characteristic facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. Congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia have also been described. A mutation in the KMT2D gene (previously known as MLL2 gene) is found in 50%-75% of patients with Kabuki syndrome. In about 9% of patients with Kabuki syndrome, a mutation in KDM6A gene is found.