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Description:MPV 17 is a newly identified gene encoding an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. The mitochondrial DNA depletion syndromes are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to organ failure. There are two main clinical presentations: myopathic (OMIM 609560) and hepatocerebral (OMIM 251880). Mutations in DGUOK (test #3075) and POLG (test #3065) account for only a fraction of hepatocerebral form of mtDNA depletion syndrome. Recently, deleterious mutations in MPV17 were identified in three families with hepatocerebral form of mtDNA depletion syndrome. The affected individuals died of liver failure within the first year of life. Liver transplantation was effective in maintaining relative metabolic compensation and long-term survival. However, the surviving patients had severe growth delay and developed neurological symptoms and multiple brain lesions. The MPV17 gene contains 7 coding exons and is located on chromosome 2p21-23. Reasons for Referral:
Testing Methodology:A PCR-based assay is used to amplify all exons and the immediately adjacent intronic regions of the MPV17 gene. Direct sequence analysis of PCR products is performed in both the forward and reverse directions using automated fluorescent dideoxy sequencing methods. Specimen Requirements:Blood: EDTA (purple-top) tubes: Adult: 14 cc; Child: 6 cc; Infant: 2-3 cc Turnaround Time:4 weeks CPT Codes and Prices:Index: 83904x14, 83898x7, 83912,
83891, 83894x2 Shipping InformationForms:>> Gene
Sequencing Requisition or Mitochondrial
Requisition - Mitochondrial Diagnostic Checklist is included References:Spinazzola A, et al. (2006) MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat. Genet. 38: 570-575. Test Code:
Index: 3320 |