Invitae KBG Syndrome Test
Use
The Invitae KBG syndrome test analyzes the ANKRD11 gene associated with KBG syndrome. This syndrome is characterized by macrodontia of the central upper incisors, distinctive facial features, skeletal anomalies, seizures, and intellectual disability. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions.
Special Instructions
Ordering requires a specimen collection kit. Alternate specimens such as saliva and buccal swab are accepted but whole blood in a purple-top EDTA tube is preferred.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length, and exon-level deletions and duplications. Some variants like structural rearrangements, or those embedded in complex sequences, may not be detected. The test does not cover all sequence changes in promoter and non-coding regions.
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)