Days Set Up
Monday - Friday
Analytic Time

28 days

MiChart Code
PTPN11 Gene Sequencing in Inherited Disorders
Soft Order Code
PTPNS

Test Updated:

Synonyms

PTPNS
PTPN11 SEQUENCING
PTPNSS
PTPN11 Sequencing Shadow
Noonan Syndrome
Protein Tyrosine Phosphate non-receptor type 11 Gene Sequencing
LEOPARD Syndrome
Multiple Giant Cell Lesion Syndrome
SHP2 / PTP2C Mutation Analysis

Looking to order a test?

We’ve provided helpful links to make ordering easy.

Find a Requisition

All specimens should be accompanied by a requisition.

Submitting Specimens

Learn about how to properly label and where to ship specimens.

Order Kits and Supplies

MLabs provides all the supplies necessary for the collection of specimens.

Test FAQ

Visit our provider FAQ and learn about common questions to ordering tests.

Test Overview

Test Methodology

The coding exons and associated, flanking splice sites of the PTPN11 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.

Test Usage

To detect the presence of PTPN11 mutations in patients with a diagnosis of Noonan syndrome, LEOPARD syndrome, and other syndromes associated with PTPN11 mutations, particularly if SOS1 (with or without KRAS) mutation analysis was previously performed, and for carrier testing in families with a known PTPN11 mutation. All coding exons and associated flanking splice sites of the PTPN11 gene will be sequenced.

Reference Range

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Onsite

Collect specimen in a lavender top tube. Send intact specimen to the lab within 24 hours. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained by contacting the MMGL Molecular Genetics Laboratory at 615-2429 during business hours Monday - Friday or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Collection Offsite

Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Lavender Top Tube
Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood

Billing Information

CPT Code
81406
Pro Fee Code
 
LOINC
 

Have More Questions?

Explore our helpful billing resources:

Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.