Distal Arthrogryposis Panel, Sequencing
Also known as: DARTHR NGS
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
Not provided.
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.
Methodology
NGS
Biomarkers
LOINC Codes
- 31208-2 - Specimen source
- 41103-3 - Gene XXX Mut Anl Bld/T
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
lavender (EDTA) or yellow (ACD solution A or B) tube
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma, grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant