PTPN11-Related Disorders Sequencing

Disorder

Noonan syndrome
Leopard syndrome

Gene Names PTPN11
Clinical info Noonan syndrome is characterized by short stature, developmental delay, characteristic facial features, a webbed or broad neck, low-set nipples and chest abnormalities. Heart defects are present in up to 80% of patients and mild intellectual disability may be a feature in approximately 1/3 of patients.
Indications 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.
Associated Tests NGS RASopathy Panel
Detection PTPN11 mutations are responsible for approximately 50% of Noonan syndrome cases and 90% pf Leopard syndrome cases.
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

Known mutation: 81403

Deletion/Duplication analysis: 81405

Cost

Tier 1: $1000

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for a known mutation is $1000.  Please contact the lab 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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