Gaucher Disease (GBA) 8 Mutations, Fetal
0051439
Ordering Recommendation
Diagnostic testing for Gaucher disease.
Mnemonic
GBA FE
Methodology
Polymerase Chain Reaction/Primer Extension
Performed
Tue, Thu
Reported
7-10 days  
New York DOH Approval Status
This test is New York DOH approved.
Time SensitiveTime Sensitive

Specimen Required
Patient Preparation
  
Collect
Fetal Specimen: Two T-25 flasks at 80% confluency of cultured amniocytes. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787. Or amniotic fluid.
AND Maternal Cell Contamination Specimen:
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Cultured Amniocytes: Fill flasks with culture media. Transport two T-25 flasks at 80% confluency of cultured amniocytes. Backup cultures must be retained at the client's institution until testing is complete.
OR Amniotic Fluid:
Transport 10 mL unspun fluid. (Min: 5 mL)
AND Maternal Cell Contamination Specimen:
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells.
Amniotic fluid:
Room temperature.
Maternal Cell Contamination Specimen:
Room temperature.  
Unacceptable Conditions
  
Remarks
Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.  
Stability
Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Cell Contamination Specimen
: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
Interpretive Data:
Background information for Gaucher Disease (GBA) 8 Mutations, Fetal:
Characteristics:
Lysosomal storage disease with extreme symptomatic variability from lack of symptoms to perinatal lethality. Three subtypes have been described based on their characteristics. Type 1 has bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease but no primary CNS disease. Type 2 has CNS onset before age two and progresses rapidly to death by age four. Type 3 may have onset by age two but is slowly progressive, resulting in death usually in one's 20's or 30's.
Incidence:
1 in 900 Ashkenazi Jewish individuals, unknown in other ethnicities.
Inheritance:
Autosomal recessive.
Cause:
PathogenicGBA gene mutations.
Mutations Tested:
c.115+1G>A, p.L29Afs (c.84dupG), p.N409S (c.1226A>G), c.1263_1319del55, p.V433L (c.1297G>T), p.D448H (c.1342G>C), p.L483P (c.1448T>C), and p.R535H (c.1604G>A).
Clinical Sensitivity:
90 percent in Ashkenazi Jewish individuals; at least 55 percent in other ethnicities.
Methodology:
Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Limitations:
Mutations other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.

For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81251;
Fetal Cell Contamination (FCC): 81265
Components
Component Test Code*Component Chart NameLOINC
0050548Maternal Cell Contamination, Fetal Spec35457-1
0050612Maternal Cell Contam, Maternal Spec40704-9
0051440Gaucher Disease (GBA) 8 Mut, Allele 146988-2
0051441Gaucher Disease (GBA) 8 Mut, Allele 246988-2
0051442Gaucher Disease (GBA) 8 Mut, Interp35693-1
0051765Gaucher Disease (GBA) 8 Mut, Fetal Spec 
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Beta-glucocerebrosidase deficiency fetal
  • Beta-Glucosidase
  • Gaucher Disease