Gaucher Disease Targeted Mutation Carrier Screening Build info

Synonyms

• GAUCHERS DNA
• GAUCHERS DNA
• GAUDNA
• LAB11571

Short Name

GAUCHERS DNA

Procedure Master Number

LAB11571

Procedure ID

115457

Clinical Info

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.

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender-top (EDTA) tube(s)
Specimen:  4 mL of EDTA whole blood  or Bone Marrow(0.3 mL min)

Collection Instructions:
Note:  A signed “Patient Consent Form” is required for processing.

Transport Instructions

Room Temperature or Refrigerated

Specimen Stability

8 Days Room Temperature
8 Days Refrigerated
 Unacceptable  Frozen

Methodology

 Polymerase Chain Reaction (PCR) • Next Generation Sequencing

Days Performed

TAT: 10-16 days

Performing Laboratory

Quest Diagnostic Laboratories

CPT

81251
 LOINC Code:  41104-1

PDM

5910530

Results