Megalencephaly Panel

Next-generation sequencing.

Sequences are aligned to the human genome reference (hg19). Test performed by targeted capture for listed genes followed by next-generation sequencing with Illumina technology. This test was developed and its performance characteristics were determined by the University of Washington Department of Laboratory Medicine. It has not been cleared or approved by the US Food and Drug Administration. This laboratory is certified under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high-complexity clinical laboratory testing. This test is used for clinical purposes. It should not be regarded as investigational or for research.

Preferred:

1. Skin biopsy: 2-4 mm punch biopsy of skin collected under sterile conditions and place in sterile vials with 1-3 mL of transport medium. For specific requirements including preferred transport medium, call cytogenetics laboratory. Do not put biopsy in formaldehyde, formalin, alcohol, 5% dextrose or medium buffered with bicarbonate. Skin biopsies may be routed to cytogenetics for culturing fibroblasts.

For patients within the UW Medicine system: Once biopsy has been obtained, follow instructions for transport of skin biopsies for genetic/molecular testing, see Test catalog entry under Code:599.

2. Formalin-fixed paraffin embedded tissue: Send EITHER (a) formalin-fixed slides, OR (b) formalin-fixed tissue block:

(a) Instructions for slide specimens: 1 slide at 4-micron thickness stained with hematoxylin-and-eosin AND 10 unstained, non-baked slides at 10-micron thickness. Unstained slides can be on charged or uncharged slides. Note: In order to ensure that enough DNA is obtained, the minimum acceptable tissue area is 10 square millimeters when ten 10-micron slides are supplied (1 cubic millimeter of tissue). Tissue sections should contain as much lesional tissue as possible; to ensure detection of all types of mutations, there should be at least 10% lesional cells in the tissue area processed for DNA.

(b) Instructions for tissue block specimen: Provide complete formalin-fixed tissue block containing lesional tissue. If there is more than one tissue block, please provide the block that has the greatest amount of lesional tissue. Tissue block will be returned at completion of testing.

Unacceptable: Decalcified samples; tissue samples treated with fixatives other than formalin.

Also acceptable:

BLOOD:

• 10 mL whole blood in LAVENDER TOP EDTA or YELLOW TOP ACD tube and purified DNA from peripheral blood or cultured cells.

CULTURED CELLS:

• (2) T25 or (1) T75 flask (minimum 1-T25 flask)*.

*Prenatal testing requires concomitant testing for maternal cell contamination (see Online Test Guide Maternal Cell Contamination, Fetal [MCC] for ordering and specimen requirements)

Requisition Form and Ordering Instructions:

1. Fill out a Genetics Requisition Form
2. Check "Megalencephaly Panel"

Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).

Ship specimen at room temperature for overnight delivery.

Blood specimens can be held for up to 7 days before shipping if refrigerated.

Ship specimens to:

UW MEDICAL CENTER

LABORATORY MEDICINE - GENETICS LAB

1959 NE PACIFIC ST, ROOM NW220

SEATTLE, WA 98195-7110

Blood: Refrigerate whole blood

Unacceptable Conditions: Frozen or clotted specimens

Stability (collection to initiation of testing): Ambient: 5 days; Refrigerated: 7 days; Frozen: Unacceptable

Purified DNA: Refrigerate DNA specimens. Frozen is acceptable.

For additional test/billing information, see following page: MegaPlex™ CPT codes.

For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.

Billing and Insurance Pre-Authorization

We offer insurance pre-authorization services (preauthorization is only done for providers who are external to the UW system).

Email: gpab@uw.edu or call 1-855-320-4869 for more information.

Genetics Preauthorization Form