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Lab Dept:
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Anatomic Pathology
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Test Name:
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NEUROFIBROMATOSIS TYPE 1 (NF1) KNOWN MUTATION
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General Information
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Lab Order Codes:
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NF1F
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Synonyms:
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Von Recklinghausen disease
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CPT Codes:
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81403 – NF1 Known family variant, DNA sequence analysis, each variant exon (Molecular Pathology Level 4)
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Test Includes:
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Targeted detection of a previously characterized NF1 mutation within the family.
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Logistics
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Test Indications:
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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.
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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University of Alabama Medical Genomic Laboratory (NF1, Test 2)
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Phone Numbers:
Minneapolis:
Saint Paul:
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612-813-6280
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651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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2-3 weeks
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Special Instructions:
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A completed requisition form with informed consent and phenotypic checklist form must accompany each sample or patient to the laboratory.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender (EDTA) top tube
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Draw Volume:
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1 mL whole blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture. Invert sample gently to mix. Forward immediately to the lab.
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Special Processing:
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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.
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Patient Preparation:
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None
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Sample Rejection:
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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
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Interpretive
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Reference Range:
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No mutations detected
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Critical Values:
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N/A
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Limitations:
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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).
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Methodology:
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Phytohemagglutinin-stimulated lymphocyte culture, Microsatellite analysis, Protein truncation test (PTT), cycle sequencing and long-range RT-PCR.
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References:
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University of Alabama Medical Genomics Laboratory January 2013
(205) 934-5562 Fax (205) 996-2929
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Updates:
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1/11/2007: CPT 2007 update
5/6/2010: CPT updates
1/15/2013: CPT updates
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