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

Three M syndrome 1 (3M1; MIM 273750) , 2 (3M2; MIM 612921) and 3 (3M3; MIM 614205) are autosomal recessive disorders characterized by pre- and postnatal growth retardation, large head circumference, and a characteristic facial appearance including a pointed triangular shaped face, frontal bossing, midface hypoplasia, a short upturned nose with anteverted nares and full lips. Additional findings include slender long bones, tall vertebral bodies, delayed bone age and prominent heels. Intracranial aneurysms have also been rarely reported. To date, mutations in the CUL7 (cullin 7), OBSL1 (obscurin-like 1) and CCDC8 (coiled-coil domain-containing protein 8) genes have been linked to 3M1, 3M2 and 3M3, respectively. There are no apparent phenotypic differences between patients with mutations in CUL7, OBSL1 or CCDC8. 3M1, gloomy face syndrome and Yakut short stature syndrome are allelic disorders. The product of CUL7 assembles an E3 ubiquitin ligase complex involved in the ubiquitin-proteasome pathway. This complex promotes ubiquitination of cyclin D1 and insulin receptor substrate 1. Studies have also indicated binding to p53. Obscurin-like 1 is a cytoskeletal adaptor protein, which interacts with the giant cytoskeletal proteins titin and myomesin. The molecular link between CUL7, OBSL1 and CCDC8 is speculative but OBSL1 may act as an adapter protein linking CUL7 and CCDC8. These molecules are thought to participate in a common pathway vital to growth control.