LEOPARD Syndrome – Tiered Molecular Testing

Disorder LEOPARD syndrome
Gene Names Tier 1: Full sequencing of PTPN11
Tier 2: Sequencing of exons 7, 14 and 17 of RAF1
Tier 3: Full sequencing of BRAF
Full Panel: Tiers 1, 2, and 3
Clinical info 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 intellectual disability may be a feature in approximately 1/3 of patients.
Indications Tiers may be ordered separately or can be run as a concurrent panel. If you are requesting multiple tiers, but would like each run separately, please indicate the order if which testing should be done. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Detection PTPN11 mutations are responsible for approximately 90% of cases of LEOPARD syndrome. Mutations in exons 7, 14 or 17 of RAF1 have been found to cause another 3% of cases.    Sequence variants in BRAF are expected to account for less than 5% of cases. The remaining cases are likely due to a yet undefined gene.
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
Transport 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.
Turnaround time 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation
Tier 1: 81406
Tier 2: 81404
Tier 3: 81406
Panel (Tiers 1, 2, and 3 run simultaneously): 81406 (x2), 81404

Known mutation: 81403

Deletion/Duplication Analysis: 81229
Cost $1000 for Tier 1
$700 for Tier 2
$2000 for Tier 3
$2400 for Full Panel

$350 for known mutation

$700 for deletion/duplication analysis for one gene OR $1200 for deletion/duplication analysis of all genes on panel

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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