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

Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by a normochromic macrocytic anemia, reticulocytopenia, and a normal marrow cellularity with a lack or absent of erythroid precursors. Most DBA patients develop hematologic complications during the first year of life. Approximately half of the patients have other findings including growth retardation, craniofacial, upper-limb, heart, and urogenital malformations. DBA is also associated with an increased risk for malignancies such as acute myelogenous leukemia, myelodysplastic syndrome, and osteogenic sarcoma.

The Diamond-Blackfan anemia NGS panel consists of eighteen genes: GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7 and TSR2.