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

Bartter syndrome is a genetically heterogeneous kidney disorder with defective sodium, potassium and chloride reabsorbtion in the thick ascending loop of Henle. Bartter syndrome is divided into two main forms; antenatal and classic Bartter syndrome. The classic form is typically less severe than the antenatal form with the age of onset in early childhood. Depending on the age of onset, severity of the disorder and the gene involved, the clinical findings may consist of polyhydramnios, premature birth, polyuria, polydipsia, muscle weakness, nephrocalcinosis, osteopenia, chondrocalcinosis, and deafness.