SPRED1 Deletion/Duplication

Mutations in SPRED1 result in a Neurofibromatosis 1-like phenotype without the serious complications associated with NF. Patients with Neurofibromatosis 1-like phenotype usually present with multiple café-au-lait spots, axillary freckling, and macrocephaly. A minority of the patients have dysmorphic features resembling Noonan syndrome. It is inherited in an autosomal dominant manner. This laboratory performs both Sanger sequencing of the SPRED1 gene as well as deletion/duplication by MLPA.

Forms & Docs

Ordering

Place an order

Test Code
C0905

Turn Around Time
2-3 weeks

Billing

CPT Code
81479×1

Ordering Guidance

Most cases are due to sequence variants. Therefore, sequencing should be ordered first. If sequencing is unrevealing, then deletion/duplication analysis may be considered.

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

Details

Genes Covered
SPRED1

Methods
MLPA