Neuronal ceroid lipofuscinoses


Description

The neuronal ceroid lipofuscinoses (NCL; CLN; Batten disease) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. There are a total of at least 14 genetically distinct diseases associated with a similar phenotype but with variable age of onset. The genes include CLN1/PPT1, CLN2/TPP1, CLN3, CLN4/DNAJC5, CLN5, CLN6, MFSD8/CLN7, CLN8, CLN10/CTSD, CLN11/GRN, CLN12/ATP13A2, CLN13/CTSF, CLN14/KCTD7, and CLCN6. Several genes, including CLN4, CLN6, CLN11/GRN, CLN13/CTSF, and CLCN6, are associated with an adult-onset NCL, which includes Kufs type A (CLN6) and Kufs type B (CLN13/CTSF). Mutations in CLN10/CTSD cause cathepsin D deficiency, which has a neonatal onset.

Also known as

NCL, Batten disease


Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.


Additional information

Next generation sequencing of 14 genes. For additional information please click on the link Download additional information >


Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

80 days


Disease / group

Next generation sequencing panel of 14 genes


Cost

Upon request


Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


Genetics

The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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