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

• RSTS
• RSTS2

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant multiple congenital anomaly syndrome characterized by postnatal growth retardation, microcephaly, mental retardation, broad thumbs and halluces and facial dysmorphism. Facial features are striking including heavy, arched eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, broad nasal bridge, narrow, high-arched palate and characteristic grimacing. RSTS1 (MIM 180849) and RSTS2 (MIM 613684) are caused by mutations in the CREBBP and EP300 genes, which code for CREB-binding protein and histone acetyltransferase p300, respectively. About 50 to 70 % of RSTS patients have mutations in CREBBP and about 3 % in EP300. Patients with RSTS2 typically have a milder phenotype than the patients with RSTS1. Also, some patients with RSTS1 can have other findings such as cardiac abnormalities, increased risk for tumor formation and additional skeletal findings.