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

Mutations in the ATP8B1 gene cause two autosomal recessive disorders affecting liver: cholestasis, benign recurrent intrahepatic, 1 (BRIC1), cholestasis, progressive familial intrahepatic, 1 (PFIC1) and one autosomal dominant disorder: cholestasis, intrahepatic, of pregnancy, 1 (ICP1). BRIC2 is caused by mutations in the ABCB11 gene. PFIC can be caused by mutations in three other genes: ABCB11 (PFIC2), ABCB4 (PFIC3) and TJP2 (PFIC4). Mutations in the ABCB4 gene have been reported in ICP3. BRIC is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. PFIC is characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. ICP typically occurs in the third trimester and it recurs in 45 to 70% of subsequent pregnancies. Findings include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes. This condition is reversible, but it can result in fetal complications including premature labor, placental insufficiency and intrauterine death. Extrahepatic findings are not usually present in any of the conditions. However, a patient with clinical findings consistent with Alagille syndrome (ALGS, ATP8B1 related) was found to have compound heterozygous mutations in ATP8B1.