Invitae Limb and Digital Malformations Panel
Use
The Invitae Limb and Digital Malformations Panel analyzes genes that are associated with conditions affecting the limbs and/or digits. These genetically heterogeneous disorders are characterized by abnormal limb and digit development or growth. Genetic testing with this panel may help confirm a clinical diagnosis and provide information for recurrence risk estimation and genetic counseling. Some genes may also be associated with additional unrelated disorders.
Special Instructions
The hand-foot-genital syndrome-associated polyalanine repeat expansions in HOXA13 are not currently analyzed by this assay. Genetic testing helps in confirming clinical diagnosis and recurrence risk estimation.
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants and small indels, but limitations include potential reduced sensitivity for larger insertions/deletions. Single-exon copy number events may also not be detected in rare cases due to sequence properties or data quality issues. Certain types of structural variants or those embedded in complex sequence may not be detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)