ARUP's Laboratory Test Directory

Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17 : 2002662
[ image for: Patient History for Freeman-Sheldon]
Patient History for Freeman-Sheldon
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Additional Technical Information


Mnemonic: FSS SEQ

Ordering Recommendation: Diagnostic testing for Freeman-Sheldon syndrome.
Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies
Reported: Within 14 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Refrigerated.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Interpretive Data: Background Information for Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17:
Characteristics: Whistler appearance due to facial muscle contractures, joint contractures of hands and feet, facial dysmorphism, strabismus, dental crowding, restricted cervical flexion, scoliosis, hearing loss, cryptorchidism and inguinal hernia.
Prevalence: Uncertain; approximately 100 cases have been reported to date.
Inheritance: Autosomal dominant.
Cause: Pathogenic MYH3 gene mutations.
Clinical Sensitivity: Approximately 70 percent.
Methodology: Bidirectional sequencing of MYH3 exon 17 which includes the two most common mutations, R672C and R672H.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. Mutations outside exon 17 will not be detected.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
CPT Code(s): 81479
Cross References: Whistling Face Syndrome (Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17)