Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel
Use
The Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel analyzes genes associated with disorders causing microcephalic primordial dwarfism and Seckel syndrome, which are characterized primarily by microcephaly and short stature. Given the genetic heterogeneity of these conditions, broad panel testing allows for efficient evaluation of several potential genes based on a single clinical indication. This approach mitigates the challenge of relying on phenotype alone to identify a definitive genetic cause.
Special Instructions
Saliva, buccal swab, and genomic DNA are also acceptable as alternative specimens to whole blood. Contact Invitae's client services for queries related to assay limitations or any other test-related questions.
Limitations
The test achieves high analytical sensitivity and specificity for certain types of genetic variants, such as single nucleotide variants and small insertions/deletions, but some limitations exist. For example, variants such as structural rearrangements or those in sequences with complex architecture might not be detected. Single exon copy number events may occasionally go unanalyzed, and non-coding regions beyond certain key sites are generally not sequenced unless otherwise stated.
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)