Use for the molecular confirmation of a diagnosis of distal arthrogryposis. Do not order for diagnosis of amyoplasia.
Massively Parallel Sequencing
New York DOH Approval Status
Lavender (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1.5 mL)
Serum or plasma; grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Genes tested: ECEL1, FBN2, MYBPC1, MYH3, MYH8*, NALCN*, PIEZO2*, TNNI2, TNNT3, TPM2
*One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
|Component Test Code*||Component Chart Name||LOINC|
|3003918||Distal Arthrogryposis Specimen||31208-2|
|3003919||Distal Arthrogryposis Interp||41103-3|
- Distal arthrogryposis
- Freeman-Sheldon syndrome
- Sheldon-Hall syndrome