- 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
Characteristics: Lysosomal storage disease causing hepatosplenomegaly, delayed physical and mental growth, hypotonia, rigidity, mental retardation, and death by age 3.
Incidence: 1 in 32,000 Ashkenazi Jewish individuals, unknown in other ethnicities.
Inheritance: Autosomal recessive.
Cause: PathogenicSMPD1 gene mutations.
Mutations Tested: p.L304P (c.911T>C), p.F333Sfs (c.996delC), p.R498L (c.1493G>T), and p.R610del (c.1829_1831)delGCC)
Clinical Sensitivity: 99 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Methodology: Multiplex polymerase chain reaction and Dectection 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.
|Component Test Code*||Component Chart Name||LOINC|
|0050548||Maternal Contamination Study Fetal Spec||31208-2|
|0050612||Maternal Contam Study, Maternal Spec||31208-2|
|0051460||Niemann-Pick Type A (SMPD1), Allele 1||32641-3|
|0051461||Niemann-Pick Type A (SMPD1), Allele 2|
|0051462||Niemann-Pick Type A (SMPD1), Interp||34518-1|
|0051809||NPD-A (SMPD1) 4 Mutations, Fetal Spec|
- SMPD1 fetal mutation assay