NGS and bioinformatic CNVs screening, 20-gene panel: ABCB7,APTX,ATCAY,ATM,CTDP1,CYP27A1,FXN,MRE11,MTTP,PCNA,PDHA1,PEX10,PEX16,PEX6,PEX7,PHYH,SETX,SIL1,SYNE1,TTPA,

Consult

Ref: LV4237 Categories: , , , , Diseases: Friedreich ataxia and differential diagnosisGenes: MRE11A, PHYH, PEX7, SIL1, PEX16, PEX6, SYNE1, ABCB7, PDHA1, PCNA, CYP27A1, APTX, TTPA, MTTP, PEX10, FXN, ATCAY, ATM-2, CTDP1-2, SETX-2Delivery term: 49 days