Kabuki, syndrome (MLL2) sequencing, whole blood

New Test in CIC Catalog

Test Code: 4467

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	50 days
Information:
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. KS is associated, in 45 to 80% of cases, with mutations in the MLL2 gene. KDM6Agene deletions have also been reported in a few cases. Clinical diagnostic criteria for KS have not been established. Diagnosis relies on the clinical observation of 5 cardinal findings which are 1) cranio-facial features, 2) postnatal growth retardation, 3) skeletal anomalies, 4) persistence of fetal fingertips and 5) intellectual deficiency. Molecular analysis may confirm the clinical diagnosis. KS occurs sporadically in most cases but may have an autosomal dominant mode of inheritance with a subsequent 50% recurrence risk.
Links:
OMIM Entry - # 147920 - KABUKI SYNDROME 1; KABUK1
Orphanet- Kabuki syndrome
OMIM Entry - - 602113 - MYELOID-LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; MLL2

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