Result Test Name
GAUCHER DISEASE
Laboratory
QUEST LAB
Result Test Code
12386008266
Laboratory Test Name
Gaucher Disease DNA Mutation Analysis
Reportable Test Name
-
Result LOINC
41104-1
Collection Container
Purple Top - EDTA
Units
-
Collection Requirements
Preferred Specimen(s) 4 mL whole blood collected in an EDTA (lavender-top) Minimum Volume 3 mL Acceptable: Whole blood collected in an EDTA (royal blue-top) tube ACD (yellow-top) tube sodium heparin (green-top) tube or lithium heparin (green-top) tube Bone marrow collected in an EDTA (lavender-top) tube Fetal specimens: 10 mL (10 mL minimum) amniotic fluid collected in a sterile leak-proof container Amniocyte or Chorionic Villus (CVS) collected in each of two sterile T-25 flasks 10 mg (10 mg minimum) dissected Chorionic Villus (CVS) biopsy collected in a sterile tube filled with sterile culture media Collection Instructions Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. Transport Container Original collection tube Transport Temperature Room temperature
Container Temp
Room Temperature (1)
Container Volume
4.000
Test Info
This Quest Test Code 90907 Clinical Significance Gaucher Disease DNA Mutation Analysis - Gaucher Disease is an autosomal recessive lysosomal storage disease that leads to the accumulation of glucocerebroside in tissues. Approximately 1 in 10 individuals of Ashkenazi Jewish heritage is a carrier. Treatment is available that averts severe morbidity and mortality.o not hold specimen; forward to laboratory when specimen arrives. Whole blood: Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. For fetal testing: 1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission 2) Documentation of parental carrier status must be provided 3) It is required that Maternal Cell Contamination Study STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test. Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives. Amniocyte or Chorionic Villus (CVS) culture: Two sterile T25 flasks 75% confluent filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive. Dissected Chorionic Villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives. Note: Do not reject. Forward to performing laboratory for evaluation of sample. If amniotic fluid or chorionic villi sampling (CVS) is received then an additional charge will be added for cell culture work (CPT code(s): 88235) if not already ordered.
Shipping Instructions
Ship at room temperature