Neurodegeneration with brain iron accumulation type 1 (NBIA1), also known as Hallervorden-Spatz syndrome, is a rare, autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood and a relentlessly progressive course. NBIA1 is caused by variants in the PANK2 gene, which encodes pantothenate kinase, the key regulatory enzyme in coenzyme-A biosynthesis. The 7-bp deletion, c.930_936delCTTTTGT, in exon 2 of the PANK2 gene is the most frequent pathogenic variant found in the Amish population. This targeted test will specifically analyze the c.930_936delCTTTTGT variant.
1 - 2 weeks