also, Neuronal Ceroid lipofuscinosis, type 3
|Clinical info||Batten disease is an autosomal recessive neurodegenerative lysosomal storage disorder, specifically one of the neuronal ceroid-lipofuscinoses (NCLs). The neuronal ceroid-lipofuscinoses are a genetically heterogenous group of disorders characterized by progressive cognitive and motor deterioration, seizures, and early death.
Batten disease is one of the most common of the NCLs with the classic juvenile onset of symptoms between ages 4 and 8 years. Vision impairment is typically the first symptom and progresses rapidly to severe vision loss. Onset of seizures between ages 9 and 18 is consistent among patients. However, the progression of cognitive and motor deterioration is variable with psychiatric symptoms, behavior problems, and sleep disturbances developing later. Individuals with Batten disease do not usually live past their early 20s.
|Indications||Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.|
|Detection||This analysis includes sequencing of the coding region of CLN3 gene as well as an allele-specific PCR to detect the common 1kb deletion previously reported in this gene. Sequence variants and the common deletion should account for more than 98% of cases of Batten disease.|
|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. Extracted DNA is also accepted.|
|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||21 days|
|Prenatal testing||Prenatal diagnosis is available if the familial mutations are 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: 81403
Deletion/Duplication Analysis: 81479
|Cost||$1000 for sequencing
$350 for known mutation
$700 for deletion/duplication analysis
Prenatal diagnosis for known mutation is $1000. Please contact the laboratory 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.