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 |
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| 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 |
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| Cost | $1000 for Tier 1 $700 for Tier 2 $2000 for Tier 3 $2400 for Full Panel $350 for known mutation |
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| Contact | For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411. | |
Form Needed
Download molecular-lab-request-form.pdf
Have Questions Need Support?
Contact our Laboratory Representative for assistance.
Kellie King, MS, CGC
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.