Number of Panel Genes: 
7

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.read more

Tests Available

7 Panel Genes: MLH1, MSH2, MSH6, NF1, NF2, PMS2, SPRED1
Next Generation Sequencing
$1,270
Test Code: 5191
Deletion / Duplication
$990
Test Code: 5192
NGS/Del Dup Comprehensive
$2,110
Test Code: 5193

Test Details

Technical Information
Panel Genes: 
MLH1, MSH2, MSH6, NF1, NF2, PMS2, SPRED1
Disease Groups: 
Neurological and Muscular Disorders
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,270
CPT Codes: 
81405 x 1
81406 x 1
81408 x 1
81479 x 4
Ordering
SKU:
5191
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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