Smith-Lemli-Opitz Syndrome, Amniotic Fluid

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General Information

Lab Name
Lab Code
915
External Test Id
Mayo ZW175; Kennedy Krieger 14
Description

Smith-Lemli-Opitz syndrome is caused by mutations in the sterol delta-7-reductase gene causing mental retardation, poor growth, and a variety of phenotypic abnormalities. The birth prevalence of SLOS is approximately 1 in 20,000 or less. This syndrome is associated with low estriol levels because steroid precursors are deficient.

For 7-dehydrocholesterol testing on plasma, refer to separate test guide #410.

Synonyms
7-Dehydrocholesterol, RSH Syndrome, SLO, SLOS
Components

Interpretation

Method

Mass Spectrometry

Reference Range

Ordering & Collection

Specimen Type
Amniotic Fluid
Collection

Collect 5 mL Amniotic Fluid

Quantity
Requested: 5 mL amniotic fluid
Minimum: 3 mL amniotic fluid

Processing

Receiving Instructions

Centrifuge amniotic fluid sample and transfer the supernatant to a separate plastic vial. Freeze at -20°C.

Login: SEND1-;FREEZE

  • RSNDT1: MAYKKI
  • RSTYP1: AMN
  • RTSRQ1: ;Smith Lemli Opitz Syndrome, Prenatal Diagnosis (KKI Test 14)

Sendouts:

  • Order Mayo test ZW175. Specify "Smith-Lemli-Opitz, Prenatal Diagnosis," Kennedy Krieger Test #14.
  • Complete the KKI requisition and send with the sample.
Misc Sendout

Performance

Lab Department
Frequency
Setup Mon-Friday. Analytic Time: 10-14 days.
Available STAT?
No
Performing Location(s)
Sendout Mayo forwards to Kennedy Krieger Institute Genetics Laboratory
800-533-1710

707 North Broadway
Room 526
Baltimore, MD 21205

Billing & Coding

Billing Comments

CPT: 82542