Distal Arthrogryposis Panel, Sequencing

Casandra

Casandra Test Code AR86453Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3003917CPT Code 81479

Distal Arthrogryposis Panel, Sequencing

Also known as: DARTHR NGS

Clinical Use

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Use

The Distal Arthrogryposis Panel, Sequencing is used for the molecular confirmation of a diagnosis of distal arthrogryposis. It is not intended for diagnosing amyoplasia. Distal arthrogryposes are a subset of arthrogryposis disorders that involve congenital contractures of the distal parts of the limbs, typically without primary neurologic or muscle disease. Testing identifies pathogenic germline variants in genes that lead to decreased fetal movement and contractures, employing massively parallel sequencing and Sanger sequencing as needed.

Special Instructions

Counseling and informed consent are recommended for genetic testing. Consent forms are available online and are required for patients in New York. Specimens collected in New York will be sent to a New York state-approved laboratory. Ordering requires the submission of an Arthrogryposis Panel Testing Patient History Form and Informed Consent for Genetic Testing if the patient is from New York.

Limitations

This test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. It cannot identify variants in regulatory regions or deep intronic regions. Deletions, duplications, insertions, or low-level mosaic or somatic variants may not be detected. Diagnostic errors could occur due to rare sequence variations. The assay may not function properly in the presence of pseudogenes, repetitive, or homologous regions. Technical limitations prevent sequencing of certain exons in MYH8, NALCN, and PIEZO2.

Test Details