• Test code: 03405
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit

Invitae Neuronal Ceroid Lipofuscinoses Panel

Test description

The Invitae Neuronal Ceroid Lipofuscinoses Panel analyzes genes that are associated with neuronal ceroid lipofuscinosis (NCL), also known as Batten disease. This test is useful for the diagnosis of individuals in whom NCL is suspected due to abnormal laboratory findings and clinical symptoms. Genetic testing of these genes may confirm a diagnosis and help guide management decisions. Please note that adult-onset forms of NCL are not included in this panel but are orderable as an add-on.

If the patient’s primary presenting symptom is epilepsy but other NCL symptoms such as visual decline, behavioral/psychiatric symptoms, motor disturbances, and others are not present, please consider choosing the Invitae Epilepsy Panel instead, as this panel includes most NCL genes.

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Primary panel (10 genes)


Add-on Adult-onset Neuronal Ceroid Lipofuscinosis Genes (3 genes)

Individuals under the age of 18 should undergo comprehensive pre-test genetic counseling before considering genetic testing for adult-onset forms of NCL. This is specifically important for the GRN gene, which, along with being associated with autosomal recessive NCL, is also associated with autosomal dominant frontotemporal dementia, a progressive neurodegenerative condition with an age of onset ranging from the 30s to 80s. For more information on genetic testing in minors, please refer to the ASHG position statement.


  • Kufor-Rakeb syndrome (KRS), Spastic paraplegia (SPG78)
  • Neuronal ceroid lipofuscinosis type 3 (CLN3)
  • Neuronal ceroid lipofuscinosis type 5 (CLN5)
  • Neuronal ceroid lipofuscinosis type 6 (CLN6)
  • Neuronal ceroid lipofuscinosis type 8 (CLN8)
  • Neuronal ceroid lipofuscinosis type 10 (CLN10)
  • Neuronal ceroid lipofuscinosis type 14 (CLN14) (Progressive myoclonic epilepsy with or without intracellular inclusions (EPM3))
  • Neuronal ceroid lipofuscinosis type 7 (CLN7), Retinal dystrophy
  • Neuronal ceroid lipofuscinosis 1 (CLN1)
  • Neuronal ceroid lipofuscinosis 2 (CLN2)

To view the complete clinical description of this panel, click here.

Neuronal ceroid lipofuscinoses are inherited as autosomal recessive conditions.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ATP13A2 NM_022089.3
CLN2 (TPP1) NM_000391.3
CLN3 NM_001042432.1
CLN5 NM_006493.2
CLN6 NM_017882.2
CLN8 NM_018941.3
CTSD NM_001909.4
CTSF NM_003793.3
DNAJC5 NM_025219.2
GRN NM_002087.3
KCTD7 NM_153033.4
MFSD8 NM_152778.2
PPT1* NM_000310.3

PPT1: Analysis includes the large, mostly intronic deletion NM_000310.3:c.124+1215_235-102del3627 as well as the intronic variant NM_000310.3:c.125-15T>G.