Niemann-Pick, Type A (SMPD1) 4 Mutations, Fetal (INACTIVE as of 07/05/16)
Ordering Recommendation
Polymerase Chain Reaction/Primer Extension
Tue, Thu
7-10 days
New York DOH Approval Status
This test is New York DOH approved.
Time SensitiveTime Sensitive
ARUP Consult®
Disease Topics
Specimen Required
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 
Reference Interval
By report
Interpretive Data
Background information for Niemann-Pick, Type A (SMPD1) 4 Mutations, Fetal:
Lysosomal storage disease causing hepatosplenomegaly, delayed physical and mental growth, hypotonia, rigidity, mental retardation, and death by age 3.
1 in 32,000 Ashkenazi Jewish individuals, unknown in other ethnicities.
Autosomal recessive.
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.
Multiplex polymerase chain reaction and Dectection Primer Extension
Analytical Sensitivity and Specificity:
Greater than 99 percent.
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.

Compliance 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.

CPT Code(s)
81330; Fetal Cell Contamination (FCC): 81265
Component Test Code*Component Chart NameLOINC
0050548Maternal Contamination Study Fetal Spec31208-2
0050612Maternal Contam Study, Maternal Spec31208-2
0051460Niemann-Pick Type A (SMPD1), Allele 132641-3
0051461Niemann-Pick Type A (SMPD1), Allele 2
0051462Niemann-Pick Type A (SMPD1), Interp34518-1
0051809NPD-A (SMPD1) 4 Mutations, 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.
  • SMPD1 fetal mutation assay