
Genetic Test
"You should know what you have been planned."
Children Rare Diseases
Children Rare Diseases Risk Report 兒童罕見疾病風險報告
Part of Screening Contents 篩選內容的一部分:
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Dental Enamel Hypoplasia牙釉質發育不全
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Systemic onset juvenile chronic arthritis全身性青少年慢性關節炎
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Severe hypothyroidism嚴重的甲狀腺功能減退症
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Juvenile rheumatoid arthritis幼年型類風濕性關節炎
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Lymphocytosis淋巴細胞增多
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Neonatal thrombocytopenia (disorder)新生兒血小板減少症(障礙)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33癲癇性腦病,早期嬰兒,33
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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IInII型糖尿病的先天性疾病
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Congenital Generalized Lipodystrophy Type 2先天性廣泛性脂肪代謝障礙2型
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Neonatal insulin-dependent diabetes mellitus新生兒胰島素依賴型糖尿病
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Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency乳酸性酸中毒,先天性嬰兒,由於缺乏
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Infantile Sandhoff Disease嬰兒桑德霍夫病
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Juvenile Spinal Muscular Atrophy少年脊髓肌肉萎縮
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Constitutional delay of growth and puberty憲法延遲增長和青春期
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Early onset torsion dystonia早發性扭轉肌張力障礙
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MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL肌無力症 ,先天性,2A,慢通道
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Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency肌肉萎縮症,先天性,由於部分LAMA2缺乏
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Childhood Medulloblastoma兒童成神經管細胞瘤
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Childhood Astrocytoma兒童星形細胞瘤
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Childhood Osteosarcoma兒童期骨肉瘤
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Lymphoblastic leukemia in children兒童淋巴母細胞白血病
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Childhood Ganglioglioma兒童神經膠質瘤
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Childhood Hepatocellular Carcinoma兒童肝細胞癌
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Cardiac valvular dysplasia, X-linked心臟瓣膜發育不良,X連鎖
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Vascular stenosis血管狹窄
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Spondyloepiphyseal Dysplasia, Kimberley Type脊椎發育不良發育不良,金伯利型
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SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3脊椎肋骨發育不全,體染色體隱性 3
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Metachromatic Leukodystrophy, Infant異染性腦白質營養不良,嬰兒
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NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO神經管缺陷,易感性
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Adrenoleukodystrophy, Neonatal腎上腺腦白質營養不良,新生兒
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Necrotizing enterocolitis in fetus OR newborn胎兒或新生兒壞死性小腸結腸炎
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Aplasia/hypoplasia of the femur股骨發育不全/發育不全
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Cystinosis, Infantile Nephropathic胱氨酸病,嬰兒腎病
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Kyphoscoliosis deformity of spine脊柱後凸畸形脊柱畸形
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Childhood Langerhans Cell Histiocytosis兒童朗格漢斯細胞組織細胞增生症
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IMMUNODEFICIENCY 17免疫缺陷17
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Hypothyroidism, Congenital, Nongoitrous, 4甲狀腺功能減退症,先天性,非遺傳性,4
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Neonatal hemolytic anemia新生兒溶血性貧血
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Neonatal encephalopathy新生兒腦病
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Hypoplastic acetabulae發育不良的髖臼
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Congenital Generalized Lipodystrophy Type 1先天性廣泛性脂肪營養不良1型
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Congenital Disorder of Glycosylation, Type Io先天性糖基化障礙,Io型
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Maturity-onset diabetes of the young, type 10成熟型糖尿病的年輕人,10型
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Cataract, Juvenile, With Microcornea And Glucosuria 內障,少年,微血管和葡萄糖尿症
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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu糖尿病的先天性疾病,Iu型
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Generalized glycogen storage disease of infants嬰兒的廣義糖原貯積病
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Familial Partial Lipodystrophy, Type 2家族性部分性脂肪營養不良,2型
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Glycogen Storage Disease Type II, Infantile糖原貯積病II型,嬰兒期
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Dystonia, Primary肌張力障礙,小學
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Muscular Dystrophy, Congenital, Megaconial Type肌肉萎縮症,先天性,Megaconial型
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Acral pseudolymphomatous angiokeratoma of children (APACHE)兒童肢端假性血管性角膜瘤(APACHE)
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Adrenocortical Carcinoma, Pediatric腎上腺皮質癌,小兒科
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Juvenile polyposis syndrome青少年息肉綜合症
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Congenital central hypoventilation先天性中樞通氣不足
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Aortic Valve Insufficiency主動脈瓣膜功能不全
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CARDIOMYOPATHY AND DEAFNESS心臟瓣膜缺陷,發育
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ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)致心律失常性右心室發育不良,家族的,5(障礙)
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Paroxysmal familial ventricular fibrillation陣發性家族性心室顫動
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Childhood nephrotic syndrome兒童腎病綜合症
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DEAFNESS, AUTOSOMAL RECESSIVE 18B聽力缺損,體染色體隱性 18B
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Metachromatic leukodystrophy, juvenile type異色性腦白質營養不良,幼年型
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Corpus callosum agenesis neuronopathy發育不全神經元病
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Bulimia Nervosa神經性貪食症
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INFANTILE LIVER FAILURE SYNDROME 1嬰兒肝衰竭綜合症1
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LIVER FAILURE, INFANTILE, TRANSIENT肝功能衰竭,嬰兒,暫時性
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Childhood Acute Lymphoblastic Leukemia兒童急性淋巴細胞白血病
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Childhood Acute Myeloid Leukemia兒童急性髓性白血病
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Poliosis白髮症
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SCLEROSING CHOLANGITIS, NEONATAL硬化性膽管炎,新生兒