Neurofibromatosis type I (NF1; MIM 162200) is an autosomal dominant 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 more

Tests Available

By gene: NF1
Next Generation Sequencing
Test Code: 2427
Deletion / Duplication
Test Code: 2428
NGS/Del Dup Comprehensive
Test Code: 2429

Test Details

Technical Information
Disease Groups: 
Neurological and Muscular Disorders
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81408 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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