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

Fibrochondrogenesis - Fibrochondrogenesis 1 (FBCG1; MIM 228520) and fibrochondrogenesis 2 (FBCG2; MIM 614524) are short limbed skeletal dysplasias that are usually, but not always lethal. The disorder is named for the disorganized cartilage growth plate in which chondrocytes resemble fibroblasts and there are regions of fibrous extracellular matrix. The patients have been described with frontal bossing, a flat mid face with a small nose, anteverted nares, long philtrum, cleft palate and short neck. The chest is small and bell shaped, the ribs are short and wide with metaphyseal cupping, the long bones are short with broad metaphyses, there is platyspondyly with posterior vertebral hypoplasia and a rounded anterior end, the pelvis may appear hypoplastic with small medial spikes. FBCG1 is caused by autosomal recessive mutations in COL11A1. FBCG2 is caused by either autosomal dominant or autosomal recessive mutations in COL11A2. Mutations in COL11A1 also cause Stickler syndrome, type II (STL2; MIM 604841) and Marshall syndrome (MIM 154780), which are autosomal dominant disorders characterized by facial dysmorphism, sensorineural hearing loss, high myopia, vitreoretinal degeneration and early onset arthritis. Mutations in COL11A2 cause Stickler syndrome, type III (STL3; MIM 184840), which is an autosomal dominant disorder similar to STL2 but lacking ocular findings. Mutations in COL11A2 also cause autosomal recessive otospondyloepimegaphyseal dysplasia (OSMED; MIM 215150) and autosomal dominant Weissenbacher-Zweymuller syndrome (WZS; MIM 277610).