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

Adams-Oliver syndrome (AOS) is characterized by terminal limb defects and congenital absence of skin on the scalp (aplasia cutis congenita). The limb defects most often affect the distal phalanges but more proximal defects have been observed. Defects include brachydactyly, syndactyly, hypoplastic fingers and toes, or even complete absence of fingers and toes. The limb defects may be asymmetrical. Cutis marmorata, dilated scalp veins, hypoplastic or absent nails, congenital heart defects, microphthalmia, microcephaly, and anomalies of the central nervous system have also been described. The clinical findings and penetrance of AOS are highly variable even within families.