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

Overgrowth syndromes are characterized by pre- and postnatal overgrowth, accelerated osseous maturation, a characteristic craniofacial appearance, and developmental delay. All of these syndromes show considerable phenotypic overlap; however, these disorders also have some distinct clinical features. Congenital heart anomalies, scoliosis, renal abnormalities and seizures are common in Sotos syndrome, while Weaver syndrome is associated with campodactyly, umbilical hernia, a hoarse cry in infancy, and soft, doughy skin. Cohen-Gibson syndrome is clinically related to Weaver syndrome. Simpson-Golabi-Behmel syndrome, type 1 can be distinguished from other overgrowth disorders by its unique set of features, including coarse facies, macrostomia, macroglossia, cleft palate, postaxial polydactyly, rib abnormalities, and congenital heart defects. Simpson-Golabi-Behmel syndrome, type 2 clinically overlaps with Simpson-Golabi-Behmel syndrome, type 1. Simpson-Golabi-Behmel syndrome, type 2 is more severe and often lethal in infancy. Patients with multiple congenital anomalies-hypotonia-seizures syndrome 2 have multiple congenital anomalies, neonatal hypotonia and myoclonic seizures. Kosaki overgrowth syndrome is associated with hyperelastic skin, premature aging and neurodegeneration. In addition to skeletal overgrowth Marfan syndrome is characterized by ocular and cardiovascular features. Additional clinical features in Luscan-Lumish syndrome include macrocephaly, behavioral problems and seizures.

The overgrowth syndrome NGS panel consists of eleven genes: DNMT3A, EED, EZH2, FBN1, GPC3, NFIX, NSD1, OFD1, PDGFRB, PIGA and SETD2.