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MegaPlex™ - Megalencephaly Panel

Questions: 1-800-713-5198


MegaPlex™ Megalencephaly Panel is useful for the evaluation of patients with a suspected megalencephaly syndrome. The panel (version 2) uses next-generation sequencing to detect most mutations in ABCC9, AKT1, AKT2, AKT3, BRWD3, CCND2, CDKN1C, CUL4B, DEPDC5, DNMT3A, EED, EZH2, GLI3, GNAQ, GNAS, GPC3, HEPACAM, KCNJ8, KIF7, MED12, MLC1, MTOR, NFIA, NFIX, NSD1, PIK3CA, PIK3R2, PTCH1, PTEN, RAB39B, RIN2, RNF135, SETD2, STRADA, TBC1D7, TSC1, and TSC2. The assay completely sequences all exons of these genes AND detects large deletions, duplications and mosaicism. For information about how University of Washington Department of Laboratory Medicine reports variants, see Variant Policy.

Genes Tested (assay version 2)

GeneDiseaseReference (PMID)
ABCC9Cantu syndrome 22610116
AKT1Proteus syndrome21793738,22876373
AKT2Asymmetric overgrowth with hypoglycemia21979934
AKT3Hemimegalencephaly, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome, focal cortical dysplasia22729224,25722288
BRWD3X-linked intellectual disability and macrocephaly17668385
CCND2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome24705253
CDKN1CIMAGe syndrome, Beckwith Wiedemann20301568,24624461
CUL4BSyndromic X linked mental retardation 17236139,25385192
DEPDC5Focal epilepsy with or without focal cortical dysplasia, familal focal epilepsy with variable foci23542701,23542697
DNMT3ATatton-Brown-Rahman Syndrome24614070
EEDOvergrowth and macrocephaly25787343
EZH2Weaver syndrome23865096
GLI3Greig cephalosyndactyly, Acrocallosal syndrome20301619,12414818
GNAQSturge Weber Syndrome, capillary malformation (port-wine)23656586
GNASFibrous Dysplasia/McCune-Albright Syndrome, Pseudopseudohypoparathyroidism, pseudohypoparathyroidism 1A, 1B, and progressive osseous heterotopia25719192
GPC3Simpson-Golabi-Behmel syndrome20301398
HEPACAMMegalencephalic Leukoncephalopathy with Subcortical Cysts20301707
KCNJ8Cantu syndrome 24700710
KIF7Macrocephaly, multiple epiphyseal dysplasia and distinctive facies22587682
MED12Opitz-Kaveggia syndrome20301719
MLC1Megalencephalic Leukoncephalopathy with Subcortical Cysts20301707
MTORMegalencephaly, hemimegalencephaly, focal cortical dysplasia25799227
NFIAMacrocephaly and intellectual disability19763616,26997977
NFIXOvergrowth and macrocephaly25118028
NSD1Sotos syndrome20301652
PIK3CAPIK3CA-related overgrowth syndromes (PROS), Megalencephaly with capillary malformation (MCAP), CLOVES syndrome, megalencephaly, hemimegalencephaly, focal cortical dysplasia, Klippel Trenauney syndrome, isolated lymphatic malformations, isolated venous malformations23946963,25681199,22729224,26637981
PIK3R2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome, polymicrogyria22729224,26520804
PTCH1Nevoid basal cell carcinoma syndrome, Basal Cell Nevus Syndrome, Gorlin syndrome20301330
PTENCowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS) PTEN related hamartoma syndrome, autism, focal cortical dysplasia20301661
RAB39BX-linked intellectual disability and macrocephaly with autism20159109
RIN2MACS syndrome (macrocephaly, alopecia, cutis laxa and scoliosis)19631308
RNF135Overgrowth and macrocephaly17632510
SETD2Overgrowth and macrocephaly24852293
STRADAPMSE syndrome (polyhydramnios, megalencephaly, symptomatic epilepsy)17522105
TBC1D7Megalencephaly with intellectual disability, autosomal recessive23687350,24515783
TSC1Tuberous Sclerosis20301399
TSC2Tuberous Sclerosis20301399


This assay sequences all exons of multiple genes associated with megalencephaly syndrome. A total of 1.1Mb of DNA is sequenced and the average coverage ranges from 320 to >1,000 sequencing reads per bp. Genomic regions are captured using biotinylated RNA oliognucleotides (SureSelect), prepared in paired-end libraries with ~200 bp insert size, and sequenced on an Illumina HiSeq2500 instrument with 100 bp read lengths, in a modification of a procedure described by Pritchard et al. 2012 (1). Large deletions and duplications are detected using methods described by Nord et al. 2011 (2).

Requisition Form

UWMC Genetics Requisition

CPT Codes & Pricing

For CPT codes, see the Laboratory Medicine Online Test Guide entry for MEGPX.

For pricing information, contact Reference Laboratory Services (206)685-6066 or (800)713-5198

Billing and Insurance Pre-Authorization

Reference Range

No mutation detected.

Further Information

For further information:

  • MegaPlex™ Inquiries: 1-800-713-5198

  • Other tests offered by the Genetics and Solid Tumor Diagnostic Laboratory

  • Lab telephone: (206) 598-6429
  • Supervisor: Robert Livingston, Ph.D.
  • Genetic Counselor: Angela Jacobson, M.S., C.G.C.
  • Genetic Counselor: Lauren Garrett, M.S., C.G.C.
  • Director: Colin C. Pritchard, M.D., PhD.
  • Director: Brian Shirts, M.D., Ph.D.
  • Director: Christina Lockwood, Ph.D.
  • Director: Eric Konnick, M.D.
  • Director: Jonathan Tait, M.D., Ph.D.


  1. Pritchard CC, Smith C, Salipante SJ, Lee MK, Thornton AM, Nord AS, Gulden C, Kupfer SS, Swisher EM, Bennett RL, Novetsky AP, Jarvik GP, Olopade OI, Goodfellow PJ, King MC, Tait JF, Walsh T. ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing. J Mol Diagn. (2012)14:357-66. PubMed

  2. Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. PNAS (2010) 107:12629-33.
  3. Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. (2011) 12:184.
  4. Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. (2010) 11:31-46.

Specimen Requirements and Handling

For details regarding specimen collection, handling and transport, and for a link to our requisition form, see the Laboratory Medicine Online Test Guide for some-mnemonic

2016-07-18 17:22