Gaucher Disease Targeted Mutation Carrier Screening

Synonyms

  • GAUCHERS DNA
  • GAUDNA
  • LAB11571

Cerner Name

Gauchers DNA

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 Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

4 mL of EDTA whole 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 Laboratories

Quest Diagnostic Laboratories

CPT

81251
 LOINC Code:  41104-1

PDM

5910530

Results
Component Name Base Name Common Name External Name
GAUCHER'S DNA GACHDNA GAUCHER'S DNA Gaucher Disease, DNA Mutation Analysis

Result Interpretation

Negative

Forms
Molecular-send outs LAB11571 build edit