Test Directory

Genetic analysis to provide a molecular diagnosis of these disorders. Recommended for individuals with a personal and/or family history of these disorders to ensure appropriate treatment and establish recurrence risk for family members.

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

• Pan-ethnic panel
• Equivalent to Horizon 14

The Common carrier screening panel is designed to detect carriers of disorders commonly tested by carrier screening. These disorders are severe, childhood onset disorders with autosomal recessive or X-linked inheritance that have been recommended or suggested by the American College of Obstetrics and Gynecology (ACOG) or the American College of Genetics and Genomics (ACMG) for inclusion on carrier screening panels. This test will identify individuals who are at risk of having a child with these disorders. The test includes assessment of Fragile X CGG repeat number, SMA copy number and silent carrier risk, and full gene sequencing with large deletion/duplication analysis of the rest of the disorders on the panel. This panel has high sensitivity for individuals of all ethnic backgrounds. This test is intended for pre/post-conception carrier screening and is not intended for diagnostic testing.