Neuronal ceroid-lipofuscinosis type 7 (NCL7)


Description

Variant type neuronal ceroid-lipofuscinosis (also generally referred to as variant late-infantile Batten�s disease) is a rare autosomal recessive neurodegenerative disorder which can be caused by mutations in one of several genes including CLN5, CLN6 and CLN8. The neuronal ceroid-lipofuscinoses are a group of at least eight genetically distinct diseases associated with a similar phenotype but variable age of onset. Disease associated with the CLN5, CLN6 and CLN8 genes can sometimes be referred to as Finnish, Czech and Turkish variant late-infantile Batten disease, respectively, due to mutations being more frequently identified in these populations. Variant-late infantile NCL (vLINCL) is so called due to the similarity of clinical presentation and age of onset to the classic late-infantile form of NCL. The differential diagnosis of variant NCL from other NCL types is based on age of onset, clinical phenotype and ultra structural characterisation of the storage material. Characteristic accumulation of auto fluorescent lipopigment with mixed fingerprint/curvilinear/rectilinear profiles is seen in neurones and other cell types and there is an absence of vacuolated lymphocytes on a blood smear (differentiating this type of NCL from NCL3).

Also known as

Variant late infantile Batten disease, MFSD8, Batten


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

Clinical and histopathological review of the affected patient is recommended to indicate a diagnosis of variant NCL. Please supply details of biochemical and histopathological testing undertaken, clinical details and any relevant pedigree. If the necessary patient samples are unavailable genetic testing can be undertaken in the parents of an affected child. The CLN6 gene (15q21-q23) consists of 7 exons. Mutations are generally family specific and found throughout the gene. 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

40 days


Disease / group

MFSD8


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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