Batten Disease

Disorder Batten Disease
also, Neuronal Ceroid lipofuscinosis, type 3
Gene Name CLN3
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.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

 

ACADS is located on chromosome 12q24 and encodes short chain acyl CoA dehydrogenase, which catalyzes the dehydrogenation of acyl CoA esters with 4 to 6 carbons in length in the process of mitochondrial beta-oxidation of fatty acids.  Mutations in the ACADS gene result in short chain acyl CoA dehydrogenase (SCAD) deficiency, an autosomal recessive disorder that can be asymptomatic, or  could present with neurological features such as developmental delay, hypotonia, myopathy and seizures, as well as acidosis, failure to thrive, lethargy and behavior problems.  The age of onset and severity of clinical features varies considerably

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.

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