TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

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

Method Description Describes how the test is performed and provides a method-specific reference

Next generation sequencing (NGS) and/or Sanger sequencing is performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed. NGS and/or a polymerase chain reaction (PCR)-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.

 

There may be regions of genes that cannot be effectively amplified for sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.

 

PCR-based methods and/or Sanger sequencing is used to confirm variants detected by NGS when appropriate.(Unpublished Mayo method)

 

Genes analyzed: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, CTSK, DNAJC5, GRN, KCTD7, MFSD8, PANK2, PPT1, SGSH, TPP1

 

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Varies

Report Available The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 4 weeks

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory Location Indicates the location of the laboratory that performs the test

Rochester