- Patient Preparation
- 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
- 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.
- Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Cell Contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
|Component Test Code*||Component Chart Name||LOINC|
|0050548||Maternal Contamination Study Fetal Spec||31208-2|
|0050612||Maternal Contam Study, Maternal Spec||31208-2|
|0051440||Gaucher Disease (GBA), Allele 1||46988-2|
|0051441||Gaucher Disease (GBA), Allele 2||46988-2|
|0051442||Gaucher Disease (GBA), Interpretation||35693-1|
|0051765||Gaucher Disease (GBA) 8 Mut, Fetal Spec|
- Beta-glucocerebrosidase deficiency fetal
- Gaucher Disease