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

• POREN
• POREN1

Porencephaly (POREN) is an autosomal dominant disorder characterized by fluid-filled cysts and cavities in the brain. Clinical finding include hemiplegia, tetraparesis, limb dystonia, seizures, developmental delay, exotropia and visual field defects. Neuroimaging findings include diffuse leukoencephalopathy, microbleeds, and deep white matter hyperintensities. POREN1 (MIM 175780) and POREN2 (MIM 614483) are caused by mutations in the COL4A1 and COL4A2 genes, respectively. They code for collagen alpha-1(IV) and alpha-2 (IV) chains.

COL4A1 mutations can also cause two other autosomal dominant disorders, brain small vessel disease with or without ocular anomalies (BSVD; MIM 607595) and angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC; MIM 611773). BSVD findings consist of migraine, hemiparesis, central facial palsy, seizures, porencephaly, and intellectual disability. Eye findings may include retinal arteriolar tortuosity, hypopigmentation of the fundus, corneal opacities, iris hypoplasia, microphthalmia, microcornea, cataract, glaucoma, astigmatism, amblyopia, myopia, and hyperopia. HANAC is characterized by retinal arteriolar tortuosity, retinal hemorrhage, hematuria, renal cysts, mild renal failure, and muscle contractures. Imaging show that the cerebrovascular phenotype in HANAC includes both small vessel disease and large vessel disease, but with a low incidence of hemorrhagic stroke compared to the other COL4A1 related disorders, POREN1 and BSVD.