X-linked Female-Limited Epilepsy with ID (PCDH19 sequencing)
|Disorder||X-linked Female-Limited Epilepsy with Intellectual Disability, Early Infantile Epileptic Encephalopathy, type 9|
Mutations in the PCDH19 gene are associated with early onset seizures in females. The reported ages of onset range from 4 months to 3 years with the seizures usually decreasing in frequency in later childhood and adolescence. Tonic-clonic, tonic, partial, absent, myoclonic, atonic, febrile and afebrile seizures have all been observed in patients with PCDH19 mutations. Affected females generally have some degree of cognitive impairment, and some have been reported to have autism as well. Males are usually unaffected.
|Indications||Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.|
|Associated Tests||The PCDH19 gene is also part of the XLID gene panel.|
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery|
|Turnaround time||Sequencing: 6 weeks|
|Prenatal testing||Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.|
|CPT Codes||Unknown mutation: 81479
Known mutation: 81479
Deletion/Duplication Analysis: 81229
|Cost||$1200 for sequencing
$350 for known mutation
$700 for deletion/duplication analysisPrenatal Diagnosis for a known mutation is $1000. Please contact the lab for more information.
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.