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

• NF1
• NF2

Neurofibromatosis type I (NF1) is a neurocutaneous and tumor predisposing disorder with an incidence at birth of about 1 in 3,000 individuals. It is characterized by café-au-lait spots, axillary and inguinal freckling, Lisch nodules in the eye and fibromatous tumors of the skin. NF1 is associated with increased risk for development of benign and malignant tumors.

Neurofibromatosis type 2 (NF2), the central type of NF, is a multiple neoplasia syndrome with the incidence of about 1 in 25,000 live births. The most common findings include bilateral vestibular schwannoma associated with tinnitus, hearing loss and balance dysfunction. Some individuals with NF2 may also develop brain meningiomas and schwannomas of the dorsal roots of the spinal cord, and very rarely astrocytomas. NF1 associated skin findings, café-au-lait spots and neurofibromata, are seen occasionally.

Mismatch repair cancer syndrome (MMRCS) is a rare childhood cancer syndrome with the following major tumor types: hematologic malignancies, brain/CNS tumors, colorectal tumors and multiple intestinal polyps, and other malignancies including embryonic tumors and rhabdomyosarcoma. Many individuals with MMRSC have café-au-lait spots similar to NF1. The skin lesions are often the first manifestation of MMRCS.

Legius syndrome is a genetically distinct disorder with a similar phenotype to NF1 including multiple café-au-lait spots and axillary freckling.

The neurofibromatosis and related disorders NGS panel consists of six genes: MLH1, MSH2, MSH6, NF1, NF2, SPRED1.