Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17
2002662
Ordering Recommendation
Diagnostic testing for Freeman-Sheldon syndrome.
Mnemonic
FSS SEQ
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory.
Specimen Required
- Patient Preparation
- 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.
- Unacceptable Conditions
- Remarks
- Stability
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
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: Diagnostic errors can occur due to rare sequence variations. 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
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: Diagnostic errors can occur due to rare sequence variations. 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
Note
CPT Code(s)
81479
Components
| Component Test Code* | Component Chart Name |
|---|---|
| 2002663 | FSS SEQ Specimen |
| 2002664 | Freeman-Sheldon Syndrome Interpretation |
Cross References
- Whistling Face Syndrome (Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17)