NF1 Deletion/Duplication

Features of neurofibromatosis 1 (NF1) include multiple café au lait spots, axillary and inguinal freckling, multiple discrete dermal neurofibromas, iris Lisch nodules. Most cases of NF1 are caused by point mutations. Deletions account for approximately 5% of cases. Only deletion analysis by MLPA is performed by this laboratory.

Forms & Docs

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Test Code
C0582

Turn Around Time
2-3 weeks

Billing

CPT Code
81479×1

Ordering Guidance

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
NF1

Methods
MLPA