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

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by telangiectases and arteriovenous malformations (AVMs) of the skin, mucosa and viscera. Epistaxis is the most frequent presenting finding. Gastrointestinal bleeding and telangiectases on the face, lips, tongue, fingers, and chest are other common clinical features. AVMs within the lungs, liver, and brain are a significant cause of morbidity. Pulmonary AVMs lead to morbidity via direct hemorrhage, heart failure, or shunting of emboli with subsequent brain abscess formation or stroke. AVMs involving the liver can result in hyperdynamic circulation and cause high output heart failure. Additionally, intrahepatic arteriovenous shunts may lead to cirrhosis and resultant bleeding esophageal varices. Cerebrovascular malformations causing intracranial hemorrhage also occur. Other organs known to be affected by telangiectasia or AVMs include the bladder, eyes and kidneys.