Prenatal Akinesia/Arthrogryposis Panel
Use
Fetal akinesia presents prenatally as absent or diminished fetal movement and can result in arthrogryposis multiplex congenita (AMC)—a constellation of multiple congenital joint contractures in two or more body areas. Genetic causes span central/peripheral nervous system, neuromuscular junction, muscle, connective tissue, or metabolic pathways; both inherited and de novo autosomal dominant, autosomal recessive, and X‑linked forms are observed. This panel helps identify molecular etiologies underlying fetal akinesia and arthrogryposis. ([providers.genedx.com](https://providers.genedx.com/Resources/TIS-Files/TIS-TG80.pdf?utm_source=openai))
Special Instructions
This panel uses a proprietary targeted capture system developed by GeneDx for NGS with copy‑number variant (CNV) calling, performed by Illumina sequencing, aligning to RefSeq/GRCh37 (hg19). Only whole‑gene deletions/duplications are detectable for TNNI2; FKRP includes sequence analysis only. ([providers.genedx.com](https://providers.genedx.com/Resources/TIS-Files/TIS-TG85.pdf?utm_source=openai))
Limitations
Technical limitations reduce resolution for some genes. Only whole‑gene deletions/duplications may be detected for TNNI2; sequence analysis only is performed for FKRP. Certain regions may require alternate methods for CNV detection. ([providers.genedx.com](https://providers.genedx.com/Resources/TIS-Files/TIS-TG85.pdf?utm_source=openai))
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
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