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Test: X-linked Adrenoleukodystrophy
Alternate names: XALD / ABCD1
Description: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [From Entrez Gene; 13/11/2013]
Clinical:
Methodology: Full gene sequencing
Turn around time: 3 months
Transit stability:
Comments:
Sample: Blood EDTA 2 ml
Type: Genetics
Method: Gene sequencing
Consultant/scientist: Ms Surita Meldau
Tel: 021 404 4449
email: surita.meldau@nhls.ac.za
Contact for results: Ms Surita Meldau
Tel: 021 404 4449
email: surita.meldau@uct.ac.za
Delivery address C17 NHLS Labs, NGSH, Observatory, 7925
for samples: Cape Town