For patients with suspected Jalili syndrome, sequence analysis is recommended as the first step in pathogenic variant identification. For patients in whom pathogenic variants are not identified by full gene sequencing, deletion/duplication analysis is appropriate.
- OMIM #607805: CNNM4 gene
- OMIM #217080: Jalili syndrome
- Doucette et al. (2013), Ophthamic Genet, 34:19-29.
- Parry et al. (2009), Am J Hum Genet, 84:266-273.
- Confirmation of a clinical diagnosis of Jalili syndrome.
- Carrier testing in adults with a family history of Jalili syndrome.
Analytical Sensitivity: ~99%
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Please do not refrigerate or freeze saliva sample. Please store and ship at room temperature.
- Deletion/duplication analysis of the CNNM4 gene by CGH array is available for those individuals in whom sequence analysis is negative.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.