粒线体疾病基因分析检体送件单 - ntuh.gov.tw.DOC

遺傳疾病基因分析 (Mitochondrial Disease自費項目) 收費方式1.本院：開立檢驗單→主類別-基因醫學檢驗；次類別-罕病遺傳檢驗。2.外院：台大醫院基因醫學部粒線體疾病基因分析檢體送件單、檢驗費用匯票。 (請依該項檢驗費用開立抬頭為「台大醫院」的匯票)檢體處理 ● 紫頭管 (含抗凝劑：EDTA) 每一管2ml。檢體運送 ● 以室溫保存運送，24小時內送達，切勿冰凍。報告時間 ● 自費：一般約6週內發出聯絡人●吳兆斯先生or 葉慧英小姐/ 02ext 71939報告之寄送● 本院各單位報告送至病歷室● 如為外院送檢報告寄回送檢醫師● 急件請附傳真號碼 Mitochondrial Disease Check List 疾病名稱：Mitochondrial Disorder 受試者姓名： 病歷號碼： 檢驗項目： Mt3243 (MELAS) Mt8344 (MERRF) Mt8993 (Leigh syndrome) Mt13513 (Neonatal Leigh syndrome) Skeletal muscle electron transfer chain activity Mt11778 (LHON) Mt3460 (LHON) Mt14484 (LHON) Mt1555 (Deafness) Mt10191 (Neonatal Leigh syndrome) 4977 bp deletion Others (please describe) 臨床症狀：(please select, according to alphabetical list) Central Nervous System □Normal □Ataxia □Dementia / Cognitive impairment □Developmental delay / Mental retardation □Hypotonia / Floppy baby □Involuntary movement □Seizure □Stroke / Ischemic episodes □Others Neuromuscualr System □Normal □Abnormal EMG / NCV □Elevation of CK □Muscle weakness / Myopathy □Numbness of limbs / Polyneuropathy □Others Neuroimage Studies □Not done □Normal □Increased signal at basal ganglia □MRS lactate peak (+) □Multiple cortical / subcortical region hyperintense lesions □Others Muscle Biopsy □Not done □Normal □Ragged Red Fiber □Abnormal EM mitochondrial ultrastructure □Others Metabolic Evaluation □Normal □Lactic acidosis □Low plasma carnitine □Others Vision / Hearing □Normal □Abnormal BAEP □Abnormal VEP □Hearing impairment □Optic neuropathy / Vision impairment □Ophthalmoplegia / Diplopia □Others Other Systems □Normal □Abnormal liver function □Abnormal renal function □Abnormal thyroid function □Arrhythmia / Cardiomyopathy □Diabetes mellitus □Gonadal failure □Pancytopenia □Short Stature / Failure to thrive □Others Family History □No □Yes, Please describe in below: 醫師簽名/蓋章 __________ 台大醫院基因醫學部粒線體疾病基因分析檢體送件單 送檢單位資料 醫院名稱或醫事機構 聯絡窗口(部門/姓名) 科別 送檢醫師 主治醫師 報告郵寄地址-醫院地址(請填郵遞區號) 聯絡電話 送檢時間