Limb Abnormalities and Reduction Defects Panel
Use
Limb Abnormalities and Reduction Defects Panel evaluates a broad and genetically heterogeneous spectrum of syndromic and non‑syndromic skeletal disorders. Pathogenic variants in the genes tested can cause malformations ranging from complete absence of limbs to mild phalangeal anomalies, including syndromic conditions such as Adams‑Oliver syndrome, Coffin‑Siris syndrome, and various other limb malformation disorders. The panel facilitates molecular diagnosis by comprehensive sequencing and copy‑number analysis of implicated genes, thus aiding genetic counseling, recurrence‑risk estimation, and clinical management.
Special Instructions
Not provided.
Limitations
Any gene not assessed in its entirety by both sequencing and copy‑number testing is disclosed in the methods section; limitations may include incomplete coverage of non‑coding regions, limitations of detection of certain variant types (e.g., deep intronic changes), and evolving panel content. Technical limitations include potential inability to detect low‑level mosaicism or complex structural variants not captured by exon‑level CNV design.
Methodology
NGS
Biomarkers
LMBR1
Gene
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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