Stanford Hospital & Clinics and Lucile Packard Children’s Hospital
RESULT
Test Name : Gaucher Disease: GBA Full Gene Sequencing Order Code : 12516R
Note: This is a Sendout/Referred Test and is only offered to registered patients of SHC or LPCH.
Synonyms: Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency
Specimen Type: Preferred: Whole Blood; Acceptable: Saliva
Container Type: Whole Blood in Lavender-top tube (EDTA) or Yellow-top tube Acid Citrate Dextrose Solution A (ACD); Saliva in Oragene Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Required Volume: Older Children and Adults: 5-10 mL
Minimum Volume (Pediatric): Infants (<2 years): 2-3 mL; Children (>2 years): 3-5 mL
Methodology: Direct sequencing of amplification products is performed in both forward and reverse directions using automated fluorescence dideoxy sequencing methods.
Turnaround Time: 6 weeks
Special Handling: Whole Blood: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery. Saliva: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
CPT Codes: 83891, 83894, 83898 x 11, 83904 x 22, 83909 x 22, 83912
LPCH EPIC Code: LAB3499
SHC EPIC Code: LAB12516R
Department: Sendouts
Sendout Lab: Emory Genetics Laboratory
URL: http://genetics.emory.edu/egl/tests/?search_string=Gaucher