Lab Dept:

Anatomic Pathology

Test Name:


General Information

Lab Order Codes:



Von Recklinghausen disease

CPT Codes:

81403 – NF1 Known family variant, DNA sequence analysis, each variant exon (Molecular Pathology Level 4)

Test Includes:

Targeted detection of a previously characterized NF1 mutation within the family.


Test Indications:

NF1 is characterized by multiple café-au-lait spots, Lisch nodules and cutaneous neurofibromas. Other complications such as plexiform neurofibromas, learning disabilities, seizures and malignancies may occur. The phenotype of NF 1 is variable both within and between families. Patients with deletions of the entire gene typically have a more severe presentation including dysmorphic facial features, early onset and large number of neurofibroma and mental retardation. NF1 is an autosomal dominant disorder with a very high rate of new mutations. About 50% of cases are due to new dominant mutations, where neither parent has signs of the disorder. An affected individual has a 50% risk of transmitting NF1 to each offspring, although the degree of severity can differ from person to person, even within the same family.

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

University of Alabama Medical Genomic Laboratory (NF1, Test 2)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

2-3 weeks

Special Instructions:

A completed requisition form with informed consent and phenotypic checklist form must accompany each sample or patient to the laboratory.


Specimen Type:

Whole blood


Lavender (EDTA) top tube

Draw Volume:

1 mL whole blood

Processed Volume:

Same as Draw Volume


Routine venipuncture. Invert sample gently to mix. Forward immediately to the lab.

Special Processing:

Lab Staff: Do Not centrifuge. Specimen must remain in original collection container. Ship specimen ASAP, with proper forms, at ambient temperature via overnight courier Monday – Thursday. Specimens collected Friday-Sunday can be held refrigerated until shipped. Call Medical Genomics at 1-800-499-4363 and inform them a specimen is coming.

Patient Preparation:


Sample Rejection:

Mislabeled or unlabeled specimens; frozen specimens, contaminated specimens, absence of referring physician and address, absence of billing information, absence of informed consent, absence of phenotypic checklist


Reference Range:

No mutations detected

Critical Values:



Germline mutations in the NF1 gene have been identified in >95% of patients (with sporadic disease as well as those with a positive family history).


Phytohemagglutinin-stimulated lymphocyte culture, Microsatellite analysis, Protein truncation test (PTT), cycle sequencing and long-range RT-PCR.


University of Alabama Medical Genomics Laboratory January 2013
(205) 934-5562  Fax (205) 996-2929


1/11/2007: CPT 2007 update
5/6/2010: CPT updates
1/15/2013: CPT updates