Ordering Recommendation

Use for the molecular confirmation of a diagnosis of distal arthrogryposis. Do not order for diagnosis of amyoplasia.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation

Lavender (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA) or Yellow (ACD solution A)

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)
New York State Clients: 5 mL (Min: 3 mL)

Storage/Transport Temperature


Unacceptable Conditions

Serum or plasma, grossly hemolyzed or frozen specimens


Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 1 week; Frozen: Unacceptable


Massively Parallel Sequencing




10-15 days

Reference Interval

By report

Interpretive Data

Refer to report.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. 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.

Compliance Category

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.

Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
3003918 Distal Arthrogryposis Specimen 31208-2
3003919 Distal Arthrogryposis Interp 41103-3
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • contractures
  • Distal arthrogryposis
  • Freeman-Sheldon syndrome
  • Sheldon-Hall syndrome
Distal Arthrogryposis Panel, Sequencing