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Test Code MEGPX UM Megalencephaly Panel

Clinical System Name

Megalencephaly Panel

Synonyms

Megaplex

Description

This panel is useful for the evaluation of patients with suspected overgrowth syndromes including:

  • body overgrowth syndromes such as Proteus, fibroadipose hyperplasia, and CLOVES (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis/Skeletal/Spinal anomalies)
  • brain overgrowth/megalencephaly syndromes such as PTEN-hamartoma spectrum of disorders (Cowden, Bannayan-Riley-Ruvalcaba, and megalencephaly with autism)
  • vascular malformation syndromes such as Klippel-Trenaunay syndrome

The panel uses next-generation sequencing to detect most mutations in the genes listed below. The assay completely sequences all exons of these genes, detects large deletions and duplications, and has the potential to detect mosaicism.

 

Genes in panel:  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, TSC2

 

 

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow Top/ACD A or B

Preferred Vol: 10 mL

Minimum Vol: 5 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 6 micrograms, concentration: at least 25 nanograms/microliter

Minimum Vol: 3 micrograms

 

Specimen: Fresh frozen tissue

Container(s): Sterile cup or tube

Preferred Vol: 200-300mg

Minimum Vol: 50mg

 

Specimen: Cultured cells

Acceptable: Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

 

Buccal, saliva, and prenatal specimens are not accepted for this test at this time.

Processing Instructions

Reject due to: Decalcified samples; tissue samples treated with fixatives other than formalin.

Spin: No

Aliquot: No

Temp: 2-4 C

Storage location: Affix large Cerner labels to tubes and place in CPA refrigerator send-outs rack.

 

Off-site collection: Send at room temperature for overnight delivery. Ok to hold blood up to 7 days before shipping if refrigerated.

Stability

 

Specimen Type Temperature Time
Whole blood Room temp  
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA from blood or cultured fibroblasts Room temp 3-4 d
Extracted DNA from blood or cultured fibroblasts Refrigerated 1 y
Extracted DNA from blood or cultured fibroblasts Frozen Indefinitely
Fresh frozen tissue Frozen  
Cultured cells Room temp 3 days

 

Availability

STAT TAT
No 8 weeks (Turnaround time may be longer for samples other than blood and DNA.)

 

Performing Laboratory

University of Washington

UW Genetics Lab

Dept of Laboratory Medicine

1959 NE Pacific St, NW220
Seattle, WA 98195

 

Phone Number: (206) 598-6429

Department

Department:  Send Outs

 

Phone Number: (206) 987-2563

 

Reference Range

Interpretive report provided.

Methodology

Method: Next-generation sequencing

Analytical Volume:

Limitations:

Clinical Utility

This panel is useful for the evaluation of patients with suspected overgrowth syndromes including:

  • body overgrowth syndromes such as Proteus, fibroadipose hyperplasia, and CLOVES (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis/Skeletal/Spinal anomalies)
  • brain overgrowth/megalencephaly syndromes such as PTEN-hamartoma spectrum of disorders (Cowden, Bannayan-Riley-Ruvalcaba, and megalencephaly with autism)
  • vascular malformation syndromes such as Klippel-Trenaunay syndrome

 

 

Indications for testing include:
- Molecular genetic confirmation when one or more of the above syndromes are suspected

Send Out Instructions

 

Reference Test Name:

Megalencephaly Panel

Reference Test Number: MEGPX
Instructions: Ship refrigerated, avoid freezing sample. Send out M thru F with the UW courier.