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
JSRD typically manifests in early childhood with neurological symptoms such as hypotonia, developmental delay, breathing abnormalities, atypical eye movements, and progressive truncal ataxia. MKS is a developmental disorder with severe symptoms, including kidney cysts, brain protrusions, and polydactyly. Affected individuals may not present with all symptoms.
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)