LEOPARD Syndrome - Tiered Molecular Testing
LEOPARD syndrome is
also known as multiple lentigines syndrome. LEOPARD is an acronym for
Lentigines, ECG anomalies, Ocular hypertelorism, Pulmonic
stenosis, Abnormal genitalia, Retarded growth and
sensorineural Deafness. Mild mental retardation may be a feature
in approximately 1/3 of patients.
LEOPARD syndrome
can be caused by a mutation in one of two known genes. The Molecular
Diagnostic Laboratory of the Greenwood Genetic Center is offering a
tiered approach to the molecular diagnosis of LEOPARD syndrome.
PTPN11 mutations are responsible for approximately 90% of cases of
LEOPARD syndrome. Mutations in exons 7, 14 or 17 have been found to
cause another 3% of cases. The remaining 7% cases are likely due to a
yet undefined gene.
These tiers may be
ordered separately or can be run simultaneously.
Specimen
requirements: 5 to 10 ml of
peripheral blood collected in an EDTA (lavender top) Vacutainer tube is
preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
If necessary, ACD solution A Vacutainer tubes (yellow top) may be
submitted. Please contact the laboratory for more information.
Transport:
Please contact the Molecular Diagnostic Lab Coordinator (1-800-473-9411)
for shipping information. The specimen should be kept at room
temperature and delivered via overnight shipping. FedEx is preferred. If
shipment is delayed by one or two days, the specimen should be
refrigerated and shipped at room temperature. Do not freeze the
specimen. Samples collected on Friday can be safely designated for
Monday delivery.
Analysis
standards: Analysis will be
complete within 6 weeks of sample receipt. The laboratory director and
technical staff members independently assess the quality and
interpretation of the test. The Greenwood Genetic Center Molecular
Diagnostic Laboratory is CLIA certified and actively participates in CAP
proficiency surveys.
Reporting of
Test Results: Test results
with interpretation will be mailed and/or faxed following completion of
the test. Verbal reports will be telephoned to the person(s) requesting
the test when an abnormal test result occurs. Consultation with the
laboratory director and explanations of testing protocols are available
upon request.
CPT Codes:
-
Tier 1: 83890,
83898 (x5), 83904 (x4), 83909 (x4), 83912
-
Tier 2: 83890,
83898 (x3), 83904 (x5), 83909 , 83912
-
Panel (Tiers 1 and 2 run
simultaneously): 83890, 83898 (x11), 83904 (x5), 83909 (x5), 83912
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