Test Directory

Non-Prenatal Specimens

Prenatal Specimens

Either specimen type below is acceptable.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

• Transport at room temperature within 24 hours.
• If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
• Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 

• Improperly labeled specimen (minimum of two patient identifiers)
• Inappropriate specimen type
• Incomplete or incorrect test request form
• Insufficient volume
• Specimen has leaked in transit
• Specimen without a test order

Kabuki syndrome is genetically and clinically heterogeneous developmental disorder. Clinical findings include developmental delay, distinct facial features, cleft lip and/or palate, postnatal growth retardation, genitourinary anomalies, and skeletal findings such as scoliosis and congenital hip dislocations. Facial features long palpebral fissures with eversion of lateral third of lower eyelids, broad arched eyebrows with sparseness, short nasal columella with depressed nasal tip, and prominent or cupped ears. Congenital heart defects, ventricular septal defect, atrial septal defect, bicuspid aortic valve, and aortic coarctation are also relatively common findings. Most patients have mutations in the KDM6A or KMT2D gene. A few patients have been reported to have a mutation in the HNRNPK, RAP1A or RAP1B genes.

The Kabuki syndrome NGS panel consists of five genes: HNRNPK, KDM6A, KMT2D, RAP1A and RAP1B.