NSD1 Sequencing

Test Background Mutations in NSD1 result in Sotos syndrome, which is characterized by typical facial features (malar flushing, sparse frontotemporal hair, high bossed forehead, downslanting palpebral fissures, a long narrow face, and prominent narrow jaw), overgrowth (height and/or head circumference greater than or equal to 2 SD above the mean), and learning disability ranging from…

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SPRED1 Deletion/Duplication

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FLNA Deletion/Duplication

Test Background X-linked periventricular heterotopia (also called periventricular nodular heterotopia or PNH) is caused by point mutations or deletions affecting the FLNA gene with presumed loss of function. About 80% of individuals with X-linked periventricular heterotopia have a detectable mutation in the FLNA gene. Most cases of X-linked periventricular heterotopia are caused by point mutations.…

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SBDS Sequencing

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TMPRSS6 Sequencing

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NLGN3 Sequencing

Test Background Mutations in NLGN3/4 have been associated with autism spectrum disorders and mental retardation. NLGN3/4 is inherited in an X-linked manner. This laboratory performs Sanger sequencing of the NLGN3 gene. Gene(s) NLGN3 Order this test Vital Information Test Code: S0483 Turnaround Time: 3-5 weeks CPT Code: 81405×1 Billing Important Billing Information Forms and Documents…

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NF2 Deletion/Duplication

Test Background Neurofibromatosis 2 (NF2) is characterized by vestibular schwannomas causing tinnitus, hearing loss, and balance dysfunction. Schwannomas may also affect other cranial and peripheral nerves. Fewer than 15% of cases are caused by in-frame deletions. Only deletion analysis by MLPA is performed by this laboratory. Gene(s) NF2 Lab Method MLPA Order this test Vital…

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PMP22 Deletion/Duplication

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DHCR7 Sequencing

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17q12 Deletion/Duplication

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