Sign in →

Test ID NCLGP Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies


Advisory Information


First-tier biochemical testing is available for the 2 most common types of enzyme deficiency associated with neuronal ceroid lipofuscinosis; order TPPTL / Tripeptidyl Peptidase 1 and Palmitoyl-Protein Thioesterase 1, Leukocytes.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

Useful For

Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL)

 

Establishing a molecular diagnosis for patients with NCL

 

Identifying variations within genes known to be associated with NCL, allowing for predictive testing of at-risk family members

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

NCL (Batten Disease) Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Neuronal ceroid lipofuscinoses (NCL) are a subset of lysosomal storage diseases that involve defective cellular processing of lipids. NCL are clinically characterized by epilepsy, intellectual and motor decline, and blindness. Electron microscopy typically shows a characteristic accumulation of granular osmophilic deposits (GROD), curvilinear profiles (CVB), or fingerprint profiles (FP). Enzymatic testing may show deficiency in palmitoyl-protein thioesterase 1 (PPT1), tripeptidyl-peptidase 1 (TPP1), or cathepsin D (CTSD). Currently there are at least 14 genetically distinct forms.

 

Age of onset and clinical features can be variable, from congenital to adult onset. NCL is typically inherited in an autosomal recessive manner, although one adult onset form (ANCL; DNAJC5 gene) has been shown to be autosomal dominant.

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424

2. Mole SE, Cotman SL: Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta. 2015;1852(10PtB):2237-2241

3. Cooper JD, Tarczyluk MA, Nelvagal HR: Towards a new understanding of NCL pathogenesis. Biochim Biophys Acta. 2015;1852(10PtB):2256-2261

4. Williams RE, Mole SE: New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012;79(2):183-191

5. Mole SE, Williams RE: Neuronal ceroid-lipofuscinoses. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington. , Seattle; 2001. Updated August 1, 2013. Accessed October 28, 2020. Available at www.ncbi.nlm.nih.gov/books/NBK1428/

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81443

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NCLGP NCL (Batten Disease) Gene Panel In Process

 

Result ID Test Result Name Result LOINC Value
608572 Test Description 62364-5
608573 Specimen 31208-2
608574 Source 31208-2
608575 Result Summary 50397-9
608576 Result 82939-0
608577 Interpretation 69047-9
608578 Resources In Process
608579 Additional Information 48767-8
608580 Method 85069-3
608581 Genes Analyzed 48018-6
608582 Disclaimer 62364-5
608583 Released By 18771-6