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

Robinow syndrome is characterized by mesomelic limb shortening, macrocephaly, dysmorphic facial features (hypertelorism, midfacial hypoplasia, short nose with depressed nasal bridge and tented upper lip), hypoplastic external genitalia in males, and renal and vertebral anomalies. It can be inherited in an autosomal recessive or dominant manner. Autosomal recessive Robinow syndrome (RRS; MIM 268310) is more severe with marked shortening of arms, brachydactyly, scoliosis, and segmentation defects such as hemivertebrae and rib fusion. RRS is often caused by loss of function mutations in the ROR2 gene which belongs to the receptor tyrosine kinase ROR family. Autosomal dominant Robinow syndrome 1 (DRS1; MIM 180700) is caused by mutations in the WNT5A gene and autosomal dominant Robinow syndrome 2 (DRS2; MIM 616331) is caused by mutations in the DVL1 gene. DRS2 is caused by truncating mutations that result in C-terminal deletion and replacement of the sequence with a novel C-terminal sequence. The phenotype caused by WNT5A and DVL1 mutations is overlapping, but differences may exist. The possible differences are macrocephaly, absence of short stature, and osteosclerosis in patients with DVL1 mutations. Patients with WNT5A mutations have macrocephaly at birth, but are normocephalic postnatally.