MOLECULAR STUDY DANON DISEASE (LAMP2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3899

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit. More than 20 families have been described in the literature so far. The disease classically manifests in males over 10 years of age. The clinical picture may be severe in both sexes, but onset generally occurs later in females. The disease is transmitted as an X-linked recessive trait and is caused by mutations in the LAMP2 gene, localised to Xq24.
Links:
OMIM Entry - #300257 - DANON DISEASE
Orphanet- Glycogen storage disease due to LAMP 2 deficiency Danon disease
OMIM Entry - -309060 - LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2

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