Invitae Joubert and Meckel-Gruber Syndromes Panel
Use
The Invitae Joubert and Meckel-Gruber Syndromes Panel analyzes 31 genes associated with Joubert syndrome and related disorders (JSRD) and Meckel-Gruber syndrome (MKS), which are characterized by congenital brain malformations, renal disease, retinal dystrophies, and oral-facial-digital features. Genetic testing of these genes may confirm a diagnosis and guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
Special Instructions
Not provided.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp, and exon-level deletions and duplications. Larger insertions and deletions may have marginally reduced sensitivity. Certain variant types such as structural rearrangements or those in complex regions may not be detected. Single-exon copy number events may also be challenging due to sequence properties or data quality.
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)
Other tests from different labs that may be relevant