Neuronal Ceroid Lipofuscinosis Type 3, Batten Disease : CLN3 Sequencing

Test Information

CLN3 sequencing is a molecular test used to identify variants in the gene associated with Neuronal Ceroid Lipofuscinosis Type 3, Batten Disease.

Turnaround Time

3 weeks

CPT Code(s)

81479

Cost

$1,000

Genes

  • CLN3

Clinical Information

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.

Methodology

Sanger Sequencing

Specimen Requirements

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube - at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. 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.

Prenatal Testing Information

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.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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